SNP Links for Protein (Select 768032374) - SNP

Select item 14914615631.

rs1491461563 has merged into rs747607452 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: X:19362823 (GRCh38)
X:19380941 (GRCh37)
Canonical SPDI:: NC_000023.11:19362816:CTCTCTCTCT:CTCTCT,NC_000023.11:19362816:CTCTCTCTCT:CTCTCTCT,NC_000023.11:19362816:CTCTCTCTCT:CTCTCTCTCTCT
Gene:: MAP3K15 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCT=0./0 (ALFA)
-=0.00008/1 (TOMMO)
-=0.00029/3 (GoESP)
HGVS:: NC_000023.11:g.19362817CT[3], NC_000023.11:g.19362817CT[4], NC_000023.11:g.19362817CT[6], NC_000023.10:g.19380935CT[3], NC_000023.10:g.19380935CT[4], NC_000023.10:g.19380935CT[6], NG_021184.1:g.157436AG[3], NG_021184.1:g.157436AG[4], NG_021184.1:g.157436AG[6], NM_001001671.4:c.3597_3600del, NM_001001671.4:c.3599_3600del, NM_001001671.4:c.3599_3600dup, NM_001001671.3:c.3597_3600del, NM_001001671.3:c.3599_3600del, NM_001001671.3:c.3599_3600dup, NG_016781.1:g.23925CT[3], NG_016781.1:g.23925CT[4], NG_016781.1:g.23925CT[6], XM_011545507.4:c.3630_3633del, XM_011545507.4:c.3632_3633del, XM_011545507.4:c.3632_3633dup, XM_011545507.3:c.3252_3255del, XM_011545507.3:c.3254_3255del, XM_011545507.3:c.3254_3255dup, XM_011545507.2:c.3630_3633del, XM_011545507.2:c.3632_3633del, XM_011545507.2:c.3632_3633dup, XM_011545507.1:c.3252_3255del, XM_011545507.1:c.3254_3255del, XM_011545507.1:c.3254_3255dup, XM_011545508.4:c.3543_3546del, XM_011545508.4:c.3545_3546del, XM_011545508.4:c.3545_3546dup, XM_011545508.3:c.3165_3168del, XM_011545508.3:c.3167_3168del, XM_011545508.3:c.3167_3168dup, XM_011545508.2:c.3543_3546del, XM_011545508.2:c.3545_3546del, XM_011545508.2:c.3545_3546dup, XM_011545508.1:c.3165_3168del, XM_011545508.1:c.3167_3168del, XM_011545508.1:c.3167_3168dup, XM_011545510.3:c.2271_2274del, XM_011545510.3:c.2273_2274del, XM_011545510.3:c.2273_2274dup, XM_011545510.2:c.2271_2274del, XM_011545510.2:c.2273_2274del, XM_011545510.2:c.2273_2274dup, XM_011545510.1:c.2271_2274del, XM_011545510.1:c.2273_2274del, XM_011545510.1:c.2273_2274dup, XM_011545511.2:c.1902_1905del, XM_011545511.2:c.1904_1905del, XM_011545511.2:c.1904_1905dup, XM_011545511.1:c.1902_1905del, XM_011545511.1:c.1904_1905del, XM_011545511.1:c.1904_1905dup, NP_001001671.3:p.Arg1199fs, NP_001001671.3:p.Glu1200fs, NP_001001671.3:p.Tyr1201fs, XP_011543809.4:p.Arg1210fs, XP_011543809.4:p.Glu1211fs, XP_011543809.4:p.Tyr1212fs, XP_011543810.4:p.Arg1181fs, XP_011543810.4:p.Glu1182fs, XP_011543810.4:p.Tyr1183fs, XP_011543812.1:p.Arg757fs, XP_011543812.1:p.Glu758fs, XP_011543812.1:p.Tyr759fs, XP_011543813.1:p.Arg634fs, XP_011543813.1:p.Glu635fs, XP_011543813.1:p.Tyr636fs

Select item 14901206452.

rs1490120645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:19361519 (GRCh38)
X:19379637 (GRCh37)
Canonical SPDI:: NC_000023.11:19361518:C:T
Gene:: PDHA1 (Varview), MAP3K15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.19361519C>T, NC_000023.10:g.19379637C>T, NG_021184.1:g.158743G>A, NM_001001671.4:c.3754G>A, NM_001001671.3:c.3754G>A, NG_016781.1:g.22627C>T, NM_000284.4:c.*1866C>T, NM_000284.3:c.*1866C>T, NM_001173454.2:c.*1866C>T, NM_001173454.1:c.*1866C>T, NM_001173455.2:c.*1866C>T, NM_001173455.1:c.*1866C>T, NM_001173456.2:c.*1866C>T, NM_001173456.1:c.*1866C>T, XM_011545507.4:c.3787G>A, XM_011545507.3:c.3409G>A, XM_011545507.2:c.3787G>A, XM_011545507.1:c.3409G>A, XM_011545508.4:c.3700G>A, XM_011545508.3:c.3322G>A, XM_011545508.2:c.3700G>A, XM_011545508.1:c.3322G>A, XM_011545510.3:c.2428G>A, XM_011545510.2:c.2428G>A, XM_011545510.1:c.2428G>A, XM_017029574.3:c.*1866C>T, XM_011545511.2:c.2059G>A, XM_011545511.1:c.2059G>A, NP_001001671.3:p.Gly1252Arg, XP_011543809.4:p.Gly1263Arg, XP_011543810.4:p.Gly1234Arg, XP_011543812.1:p.Gly810Arg, XP_011543813.1:p.Gly687Arg

Select item 14862482853.

rs1486248285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:19373684 (GRCh38)
X:19391802 (GRCh37)
Canonical SPDI:: NC_000023.11:19373683:C:T
Gene:: MAP3K15 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19373684C>T, NC_000023.10:g.19391802C>T, NG_021184.1:g.146578G>A, NM_001001671.4:c.2785G>A, NM_001001671.3:c.2785G>A, XM_011545507.4:c.2818G>A, XM_011545507.3:c.2440G>A, XM_011545507.2:c.2818G>A, XM_011545507.1:c.2440G>A, XM_011545510.3:c.1459G>A, XM_011545510.2:c.1459G>A, XM_011545510.1:c.1459G>A, XM_011545511.2:c.1090G>A, XM_011545511.1:c.1090G>A, NP_001001671.3:p.Gly929Ser, XP_011543809.4:p.Gly940Ser, XP_011543812.1:p.Gly487Ser, XP_011543813.1:p.Gly364Ser

Select item 14857854244.

rs1485785424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:19362846 (GRCh38)
X:19380964 (GRCh37)
Canonical SPDI:: NC_000023.11:19362845:A:G
Gene:: MAP3K15 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000112/1 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.19362846A>G, NC_000023.10:g.19380964A>G, NG_021184.1:g.157416T>C, NM_001001671.4:c.3571T>C, NM_001001671.3:c.3571T>C, NG_016781.1:g.23954A>G, XM_011545507.4:c.3604T>C, XM_011545507.3:c.3226T>C, XM_011545507.2:c.3604T>C, XM_011545507.1:c.3226T>C, XM_011545508.4:c.3517T>C, XM_011545508.3:c.3139T>C, XM_011545508.2:c.3517T>C, XM_011545508.1:c.3139T>C, XM_011545510.3:c.2245T>C, XM_011545510.2:c.2245T>C, XM_011545510.1:c.2245T>C, XM_011545511.2:c.1876T>C, XM_011545511.1:c.1876T>C

Select item 14838653605.

rs1483865360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:19374572 (GRCh38)
X:19392690 (GRCh37)
Canonical SPDI:: NC_000023.11:19374571:G:T
Gene:: MAP3K15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.19374572G>T, NC_000023.10:g.19392690G>T, NG_021184.1:g.145690C>A, NM_001001671.4:c.2678C>A, NM_001001671.3:c.2678C>A, XM_011545507.4:c.2711C>A, XM_011545507.3:c.2333C>A, XM_011545507.2:c.2711C>A, XM_011545507.1:c.2333C>A, XM_011545508.4:c.2711C>A, XM_011545508.3:c.2333C>A, XM_011545508.2:c.2711C>A, XM_011545508.1:c.2333C>A, XM_011545510.3:c.1352C>A, XM_011545510.2:c.1352C>A, XM_011545510.1:c.1352C>A, XM_011545511.2:c.983C>A, XM_011545511.1:c.983C>A, XM_047442100.1:c.*75C>A, NP_001001671.3:p.Pro893His, XP_011543809.4:p.Pro904His, XP_011543810.4:p.Pro904His, XP_011543812.1:p.Pro451His, XP_011543813.1:p.Pro328His

Select item 14781852736.

rs1478185273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:19380159 (GRCh38)
X:19398277 (GRCh37)
Canonical SPDI:: NC_000023.11:19380158:C:T
Gene:: MAP3K15 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.19380159C>T, NC_000023.10:g.19398277C>T, NG_021184.1:g.140103G>A, NM_001001671.4:c.2550G>A, NM_001001671.3:c.2550G>A, XM_011545507.4:c.2583G>A, XM_011545507.3:c.2205G>A, XM_011545507.2:c.2583G>A, XM_011545507.1:c.2205G>A, XM_011545508.4:c.2583G>A, XM_011545508.3:c.2205G>A, XM_011545508.2:c.2583G>A, XM_011545508.1:c.2205G>A, XM_011545510.3:c.1224G>A, XM_011545510.2:c.1224G>A, XM_011545510.1:c.1224G>A, XM_011545511.2:c.855G>A, XM_011545511.1:c.855G>A

Select item 14759898497.

rs1475989849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:19372752 (GRCh38)
X:19390870 (GRCh37)
Canonical SPDI:: NC_000023.11:19372751:G:A
Gene:: MAP3K15 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19372752G>A, NC_000023.10:g.19390870G>A, NG_021184.1:g.147510C>T, NM_001001671.4:c.3009C>T, NM_001001671.3:c.3009C>T, XM_011545507.4:c.3042C>T, XM_011545507.3:c.2664C>T, XM_011545507.2:c.3042C>T, XM_011545507.1:c.2664C>T, XM_011545508.4:c.2955C>T, XM_011545508.3:c.2577C>T, XM_011545508.2:c.2955C>T, XM_011545508.1:c.2577C>T, XM_011545510.3:c.1683C>T, XM_011545510.2:c.1683C>T, XM_011545510.1:c.1683C>T, XM_011545511.2:c.1314C>T, XM_011545511.1:c.1314C>T

Select item 14753505278.

rs1475350527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:19362776 (GRCh38)
X:19380894 (GRCh37)
Canonical SPDI:: NC_000023.11:19362775:T:G
Gene:: MAP3K15 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.19362776T>G, NC_000023.10:g.19380894T>G, NG_021184.1:g.157486A>C, NM_001001671.4:c.3641A>C, NM_001001671.3:c.3641A>C, NG_016781.1:g.23884T>G, XM_011545507.4:c.3674A>C, XM_011545507.3:c.3296A>C, XM_011545507.2:c.3674A>C, XM_011545507.1:c.3296A>C, XM_011545508.4:c.3587A>C, XM_011545508.3:c.3209A>C, XM_011545508.2:c.3587A>C, XM_011545508.1:c.3209A>C, XM_011545510.3:c.2315A>C, XM_011545510.2:c.2315A>C, XM_011545510.1:c.2315A>C, XM_011545511.2:c.1946A>C, XM_011545511.1:c.1946A>C, NP_001001671.3:p.Gln1214Pro, XP_011543809.4:p.Gln1225Pro, XP_011543810.4:p.Gln1196Pro, XP_011543812.1:p.Gln772Pro, XP_011543813.1:p.Gln649Pro

Select item 14752071089.

rs1475207108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:19372767 (GRCh38)
X:19390885 (GRCh37)
Canonical SPDI:: NC_000023.11:19372766:C:T
Gene:: MAP3K15 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.19372767C>T, NC_000023.10:g.19390885C>T, NG_021184.1:g.147495G>A, NM_001001671.4:c.2994G>A, NM_001001671.3:c.2994G>A, XM_011545507.4:c.3027G>A, XM_011545507.3:c.2649G>A, XM_011545507.2:c.3027G>A, XM_011545507.1:c.2649G>A, XM_011545508.4:c.2940G>A, XM_011545508.3:c.2562G>A, XM_011545508.2:c.2940G>A, XM_011545508.1:c.2562G>A, XM_011545510.3:c.1668G>A, XM_011545510.2:c.1668G>A, XM_011545510.1:c.1668G>A, XM_011545511.2:c.1299G>A, XM_011545511.1:c.1299G>A

Select item 147435853810.

rs1474358538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:19392005 (GRCh38)
X:19410123 (GRCh37)
Canonical SPDI:: NC_000023.11:19392004:T:C
Gene:: MAP3K15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.19392005T>C, NC_000023.10:g.19410123T>C, NG_021184.1:g.128257A>G, NM_001001671.4:c.2428A>G, NM_001001671.3:c.2428A>G, XM_011545507.4:c.2461A>G, XM_011545507.3:c.2083A>G, XM_011545507.2:c.2461A>G, XM_011545507.1:c.2083A>G, XM_011545508.4:c.2461A>G, XM_011545508.3:c.2083A>G, XM_011545508.2:c.2461A>G, XM_011545508.1:c.2083A>G, XM_011545510.3:c.1102A>G, XM_011545510.2:c.1102A>G, XM_011545510.1:c.1102A>G, XM_011545511.2:c.733A>G, XM_011545511.1:c.733A>G, XM_047442100.1:c.2461A>G, NP_001001671.3:p.Thr810Ala, XP_011543809.4:p.Thr821Ala, XP_011543810.4:p.Thr821Ala, XP_011543812.1:p.Thr368Ala, XP_011543813.1:p.Thr245Ala, XP_047298056.1:p.Thr821Ala

Select item 147363794111.

rs1473637941 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: X:19360833 (GRCh38)
X:19378951 (GRCh37)
Canonical SPDI:: NC_000023.11:19360830:CCCC:CC
Gene:: PDHA1 (Varview), MAP3K15 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,splice_acceptor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00027/3 (TOMMO)
HGVS:: NC_000023.11:g.19360833_19360834del, NC_000023.10:g.19378951_19378952del, NG_021184.1:g.159430_159431del, NG_016781.1:g.21941_21942del, NM_000284.4:c.*1180_*1181del, NM_000284.3:c.*1180_*1181del, NM_001173454.2:c.*1180_*1181del, NM_001173454.1:c.*1180_*1181del, NM_001173455.2:c.*1180_*1181del, NM_001173455.1:c.*1180_*1181del, NM_001173456.2:c.*1180_*1181del, NM_001173456.1:c.*1180_*1181del, XM_017029574.3:c.*1180_*1181del

Select item 147332267812.

rs1473322678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:19392438 (GRCh38)
X:19410556 (GRCh37)
Canonical SPDI:: NC_000023.11:19392437:G:A
Gene:: MAP3K15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.19392438G>A, NC_000023.10:g.19410556G>A, NG_021184.1:g.127824C>T, NM_001001671.4:c.2230C>T, NM_001001671.3:c.2230C>T, XM_011545507.4:c.2263C>T, XM_011545507.3:c.1885C>T, XM_011545507.2:c.2263C>T, XM_011545507.1:c.1885C>T, XM_011545508.4:c.2263C>T, XM_011545508.3:c.1885C>T, XM_011545508.2:c.2263C>T, XM_011545508.1:c.1885C>T, XM_011545510.3:c.904C>T, XM_011545510.2:c.904C>T, XM_011545510.1:c.904C>T, XM_011545511.2:c.535C>T, XM_011545511.1:c.535C>T, XM_047442100.1:c.2263C>T, NP_001001671.3:p.Pro744Ser, XP_011543809.4:p.Pro755Ser, XP_011543810.4:p.Pro755Ser, XP_011543812.1:p.Pro302Ser, XP_011543813.1:p.Pro179Ser, XP_047298056.1:p.Pro755Ser

Select item 146960762813.

rs1469607628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:19373537 (GRCh38)
X:19391655 (GRCh37)
Canonical SPDI:: NC_000023.11:19373536:T:G
Gene:: MAP3K15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19373537T>G, NC_000023.10:g.19391655T>G, NG_021184.1:g.146725A>C, NM_001001671.4:c.2932A>C, NM_001001671.3:c.2932A>C, XM_011545507.4:c.2965A>C, XM_011545507.3:c.2587A>C, XM_011545507.2:c.2965A>C, XM_011545507.1:c.2587A>C, XM_011545508.4:c.2878A>C, XM_011545508.3:c.2500A>C, XM_011545508.2:c.2878A>C, XM_011545508.1:c.2500A>C, XM_011545510.3:c.1606A>C, XM_011545510.2:c.1606A>C, XM_011545510.1:c.1606A>C, XM_011545511.2:c.1237A>C, XM_011545511.1:c.1237A>C, NP_001001671.3:p.Ser978Arg, XP_011543809.4:p.Ser989Arg, XP_011543810.4:p.Ser960Arg, XP_011543812.1:p.Ser536Arg, XP_011543813.1:p.Ser413Arg

Select item 146153378814.

rs1461533788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:19374625 (GRCh38)
X:19392743 (GRCh37)
Canonical SPDI:: NC_000023.11:19374624:T:A
Gene:: MAP3K15 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.19374625T>A, NC_000023.10:g.19392743T>A, NG_021184.1:g.145637A>T, NM_001001671.4:c.2625A>T, NM_001001671.3:c.2625A>T, XM_011545507.4:c.2658A>T, XM_011545507.3:c.2280A>T, XM_011545507.2:c.2658A>T, XM_011545507.1:c.2280A>T, XM_011545508.4:c.2658A>T, XM_011545508.3:c.2280A>T, XM_011545508.2:c.2658A>T, XM_011545508.1:c.2280A>T, XM_011545510.3:c.1299A>T, XM_011545510.2:c.1299A>T, XM_011545510.1:c.1299A>T, XM_011545511.2:c.930A>T, XM_011545511.1:c.930A>T, XM_047442100.1:c.*22A>T, NP_001001671.3:p.Glu875Asp, XP_011543809.4:p.Glu886Asp, XP_011543810.4:p.Glu886Asp, XP_011543812.1:p.Glu433Asp, XP_011543813.1:p.Glu310Asp

Select item 146143061115.

rs1461430611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:19373650 (GRCh38)
X:19391768 (GRCh37)
Canonical SPDI:: NC_000023.11:19373649:G:T
Gene:: MAP3K15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19373650G>T, NC_000023.10:g.19391768G>T, NG_021184.1:g.146612C>A, NM_001001671.4:c.2819C>A, NM_001001671.3:c.2819C>A, XM_011545507.4:c.2852C>A, XM_011545507.3:c.2474C>A, XM_011545507.2:c.2852C>A, XM_011545507.1:c.2474C>A, XM_011545510.3:c.1493C>A, XM_011545510.2:c.1493C>A, XM_011545510.1:c.1493C>A, XM_011545511.2:c.1124C>A, XM_011545511.1:c.1124C>A, NP_001001671.3:p.Pro940His, XP_011543809.4:p.Pro951His, XP_011543812.1:p.Pro498His, XP_011543813.1:p.Pro375His

Select item 145936082916.

rs1459360829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:19395084 (GRCh38)
X:19413202 (GRCh37)
Canonical SPDI:: NC_000023.11:19395083:C:T
Gene:: MAP3K15 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.19395084C>T, NC_000023.10:g.19413202C>T, NG_021184.1:g.125178G>A, NM_001001671.4:c.2191G>A, NM_001001671.3:c.2191G>A, XM_011545507.4:c.2224G>A, XM_011545507.3:c.1846G>A, XM_011545507.2:c.2224G>A, XM_011545507.1:c.1846G>A, XM_011545508.4:c.2224G>A, XM_011545508.3:c.1846G>A, XM_011545508.2:c.2224G>A, XM_011545508.1:c.1846G>A, XM_011545510.3:c.865G>A, XM_011545510.2:c.865G>A, XM_011545510.1:c.865G>A, XM_011545511.2:c.496G>A, XM_011545511.1:c.496G>A, XM_047442100.1:c.2224G>A, NP_001001671.3:p.Gly731Arg, XP_011543809.4:p.Gly742Arg, XP_011543810.4:p.Gly742Arg, XP_011543812.1:p.Gly289Arg, XP_011543813.1:p.Gly166Arg, XP_047298056.1:p.Gly742Arg

Select item 145774729117.

rs1457747291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:19392353 (GRCh38)
X:19410471 (GRCh37)
Canonical SPDI:: NC_000023.11:19392352:C:T
Gene:: MAP3K15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.19392353C>T, NC_000023.10:g.19410471C>T, NG_021184.1:g.127909G>A, NM_001001671.4:c.2315G>A, NM_001001671.3:c.2315G>A, XM_011545507.4:c.2348G>A, XM_011545507.3:c.1970G>A, XM_011545507.2:c.2348G>A, XM_011545507.1:c.1970G>A, XM_011545508.4:c.2348G>A, XM_011545508.3:c.1970G>A, XM_011545508.2:c.2348G>A, XM_011545508.1:c.1970G>A, XM_011545510.3:c.989G>A, XM_011545510.2:c.989G>A, XM_011545510.1:c.989G>A, XM_011545511.2:c.620G>A, XM_011545511.1:c.620G>A, XM_047442100.1:c.2348G>A, NP_001001671.3:p.Arg772Lys, XP_011543809.4:p.Arg783Lys, XP_011543810.4:p.Arg783Lys, XP_011543812.1:p.Arg330Lys, XP_011543813.1:p.Arg207Lys, XP_047298056.1:p.Arg783Lys

Select item 145668623618.

rs1456686236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:19369206 (GRCh38)
X:19387324 (GRCh37)
Canonical SPDI:: NC_000023.11:19369205:G:A,NC_000023.11:19369205:G:C
Gene:: MAP3K15 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.19369206G>A, NC_000023.11:g.19369206G>C, NC_000023.10:g.19387324G>A, NC_000023.10:g.19387324G>C, NG_021184.1:g.151056C>T, NG_021184.1:g.151056C>G, NM_001001671.4:c.3414C>T, NM_001001671.4:c.3414C>G, NM_001001671.3:c.3414C>T, NM_001001671.3:c.3414C>G, XM_011545507.4:c.3447C>T, XM_011545507.4:c.3447C>G, XM_011545507.3:c.3069C>T, XM_011545507.3:c.3069C>G, XM_011545507.2:c.3447C>T, XM_011545507.2:c.3447C>G, XM_011545507.1:c.3069C>T, XM_011545507.1:c.3069C>G, XM_011545508.4:c.3360C>T, XM_011545508.4:c.3360C>G, XM_011545508.3:c.2982C>T, XM_011545508.3:c.2982C>G, XM_011545508.2:c.3360C>T, XM_011545508.2:c.3360C>G, XM_011545508.1:c.2982C>T, XM_011545508.1:c.2982C>G, XM_011545510.3:c.2088C>T, XM_011545510.3:c.2088C>G, XM_011545510.2:c.2088C>T, XM_011545510.2:c.2088C>G, XM_011545510.1:c.2088C>T, XM_011545510.1:c.2088C>G, XM_011545511.2:c.1719C>T, XM_011545511.2:c.1719C>G, XM_011545511.1:c.1719C>T, XM_011545511.1:c.1719C>G, NP_001001671.3:p.His1138Gln, XP_011543809.4:p.His1149Gln, XP_011543810.4:p.His1120Gln, XP_011543812.1:p.His696Gln, XP_011543813.1:p.His573Gln

Select item 145589394119.

rs1455893941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:19395170 (GRCh38)
X:19413288 (GRCh37)
Canonical SPDI:: NC_000023.11:19395169:T:C
Gene:: MAP3K15 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.19395170T>C, NC_000023.10:g.19413288T>C, NG_021184.1:g.125092A>G, NM_001001671.4:c.2105A>G, NM_001001671.3:c.2105A>G, XM_011545507.4:c.2138A>G, XM_011545507.3:c.1760A>G, XM_011545507.2:c.2138A>G, XM_011545507.1:c.1760A>G, XM_011545508.4:c.2138A>G, XM_011545508.3:c.1760A>G, XM_011545508.2:c.2138A>G, XM_011545508.1:c.1760A>G, XM_011545510.3:c.779A>G, XM_011545510.2:c.779A>G, XM_011545510.1:c.779A>G, XM_011545511.2:c.410A>G, XM_011545511.1:c.410A>G, XM_047442100.1:c.2138A>G, XR_007068188.1:n.2583A>G, NP_001001671.3:p.Lys702Arg, XP_011543809.4:p.Lys713Arg, XP_011543810.4:p.Lys713Arg, XP_011543812.1:p.Lys260Arg, XP_011543813.1:p.Lys137Arg, XP_047298056.1:p.Lys713Arg

Select item 145353443520.

rs1453534435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:19369216 (GRCh38)
X:19387334 (GRCh37)
Canonical SPDI:: NC_000023.11:19369215:A:G
Gene:: MAP3K15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19369216A>G, NC_000023.10:g.19387334A>G, NG_021184.1:g.151046T>C, NM_001001671.4:c.3404T>C, NM_001001671.3:c.3404T>C, XM_011545507.4:c.3437T>C, XM_011545507.3:c.3059T>C, XM_011545507.2:c.3437T>C, XM_011545507.1:c.3059T>C, XM_011545508.4:c.3350T>C, XM_011545508.3:c.2972T>C, XM_011545508.2:c.3350T>C, XM_011545508.1:c.2972T>C, XM_011545510.3:c.2078T>C, XM_011545510.2:c.2078T>C, XM_011545510.1:c.2078T>C, XM_011545511.2:c.1709T>C, XM_011545511.1:c.1709T>C, NP_001001671.3:p.Leu1135Pro, XP_011543809.4:p.Leu1146Pro, XP_011543810.4:p.Leu1117Pro, XP_011543812.1:p.Leu693Pro, XP_011543813.1:p.Leu570Pro

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Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 686

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