SNP Links for Protein (Select 334085268) - SNP

Links from Protein

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Select item 14871256321.

rs1487125632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185473355 (GRCh38)
3:185191143 (GRCh37)
Canonical SPDI:: NC_000003.12:185473354:C:T
Gene:: MAP3K13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185473355C>T, NC_000003.11:g.185191143C>T, NG_083215.1:g.405C>T, NM_004721.5:c.2024C>T, NM_004721.4:c.2024C>T, XM_011513310.3:c.2024C>T, XM_011513310.2:c.2024C>T, XM_011513310.1:c.2024C>T, XM_017007456.2:c.2024C>T, XM_017007456.1:c.2024C>T, NM_001242314.2:c.2024C>T, NM_001242314.1:c.2024C>T, XM_017007457.2:c.1577C>T, XM_017007457.1:c.1577C>T, NM_001242317.2:c.1403C>T, NM_001242317.1:c.1403C>T, XM_047449193.1:c.2024C>T, NP_004712.1:p.Pro675Leu, XP_011511612.1:p.Pro675Leu, XP_016862945.1:p.Pro675Leu, NP_001229243.1:p.Pro675Leu, XP_016862946.1:p.Pro526Leu, NP_001229246.1:p.Pro468Leu, XP_047305149.1:p.Pro675Leu

Select item 14870316542.

rs1487031654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:185480410 (GRCh38)
3:185198198 (GRCh37)
Canonical SPDI:: NC_000003.12:185480409:G:C
Gene:: MAP3K13 (Varview), LOC101929018 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185480410G>C, NC_000003.11:g.185198198G>C, NG_083216.1:g.483G>C, NM_004721.5:c.2680G>C, NM_004721.4:c.2680G>C, XM_011513310.3:c.2680G>C, XM_011513310.2:c.2680G>C, XM_011513310.1:c.2680G>C, XM_017007456.2:c.2680G>C, XM_017007456.1:c.2680G>C, NM_001242314.2:c.2680G>C, NM_001242314.1:c.2680G>C, XM_017007457.2:c.2233G>C, XM_017007457.1:c.2233G>C, NM_001242317.2:c.2059G>C, NM_001242317.1:c.2059G>C, XM_047449193.1:c.2680G>C, XR_007096198.1:n.682C>G, NP_004712.1:p.Glu894Gln, XP_011511612.1:p.Glu894Gln, XP_016862945.1:p.Glu894Gln, NP_001229243.1:p.Glu894Gln, XP_016862946.1:p.Glu745Gln, NP_001229246.1:p.Glu687Gln, XP_047305149.1:p.Glu894Gln

Select item 14860702153.

rs1486070215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185428881 (GRCh38)
3:185146669 (GRCh37)
Canonical SPDI:: NC_000003.12:185428880:G:A
Gene:: MAP3K13 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.185428881G>A, NC_000003.11:g.185146669G>A, NM_004721.5:c.300G>A, NM_004721.4:c.300G>A, XM_011513310.3:c.300G>A, XM_011513310.2:c.300G>A, XM_011513310.1:c.300G>A, XM_017007456.2:c.300G>A, XM_017007456.1:c.300G>A, NM_001242314.2:c.300G>A, NM_001242314.1:c.300G>A, XM_047449193.1:c.300G>A

Select item 14848550124.

rs1484855012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185450056 (GRCh38)
3:185167844 (GRCh37)
Canonical SPDI:: NC_000003.12:185450055:G:A
Gene:: MAP3K13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.185450056G>A, NC_000003.11:g.185167844G>A, NM_004721.5:c.1167G>A, NM_004721.4:c.1167G>A, XM_011513310.3:c.1167G>A, XM_011513310.2:c.1167G>A, XM_011513310.1:c.1167G>A, XM_017007456.2:c.1167G>A, XM_017007456.1:c.1167G>A, NM_001242314.2:c.1167G>A, NM_001242314.1:c.1167G>A, XM_017007457.2:c.720G>A, XM_017007457.1:c.720G>A, NM_001242317.2:c.546G>A, NM_001242317.1:c.546G>A, XM_047449193.1:c.1167G>A

Select item 14847963565.

rs1484796356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185447906 (GRCh38)
3:185165694 (GRCh37)
Canonical SPDI:: NC_000003.12:185447905:G:A
Gene:: MAP3K13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185447906G>A, NC_000003.11:g.185165694G>A, NM_004721.5:c.969G>A, NM_004721.4:c.969G>A, XM_011513310.3:c.969G>A, XM_011513310.2:c.969G>A, XM_011513310.1:c.969G>A, XM_017007456.2:c.969G>A, XM_017007456.1:c.969G>A, NM_001242314.2:c.969G>A, NM_001242314.1:c.969G>A, XM_017007457.2:c.522G>A, XM_017007457.1:c.522G>A, NM_001242317.2:c.348G>A, NM_001242317.1:c.348G>A, XM_047449193.1:c.969G>A

Select item 14840995386.

rs1484099538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:185447796 (GRCh38)
3:185165584 (GRCh37)
Canonical SPDI:: NC_000003.12:185447795:G:T
Gene:: MAP3K13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.185447796G>T, NC_000003.11:g.185165584G>T, NM_004721.5:c.859G>T, NM_004721.4:c.859G>T, XM_011513310.3:c.859G>T, XM_011513310.2:c.859G>T, XM_011513310.1:c.859G>T, XM_017007456.2:c.859G>T, XM_017007456.1:c.859G>T, NM_001242314.2:c.859G>T, NM_001242314.1:c.859G>T, XM_017007457.2:c.412G>T, XM_017007457.1:c.412G>T, NM_001242317.2:c.238G>T, NM_001242317.1:c.238G>T, XM_047449193.1:c.859G>T, NP_004712.1:p.Val287Leu, XP_011511612.1:p.Val287Leu, XP_016862945.1:p.Val287Leu, NP_001229243.1:p.Val287Leu, XP_016862946.1:p.Val138Leu, NP_001229246.1:p.Val80Leu, XP_047305149.1:p.Val287Leu

Select item 14827064817.

rs1482706481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185473270 (GRCh38)
3:185191058 (GRCh37)
Canonical SPDI:: NC_000003.12:185473269:G:A
Gene:: MAP3K13 (Varview), LOC124906312 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185473270G>A, NC_000003.11:g.185191058G>A, NG_083215.1:g.320G>A, NM_004721.5:c.1939G>A, NM_004721.4:c.1939G>A, XM_011513310.3:c.1939G>A, XM_011513310.2:c.1939G>A, XM_011513310.1:c.1939G>A, XM_017007456.2:c.1939G>A, XM_017007456.1:c.1939G>A, NM_001242314.2:c.1939G>A, NM_001242314.1:c.1939G>A, XM_017007457.2:c.1492G>A, XM_017007457.1:c.1492G>A, NM_001242317.2:c.1318G>A, NM_001242317.1:c.1318G>A, XM_047449193.1:c.1939G>A, NP_004712.1:p.Ala647Thr, XP_011511612.1:p.Ala647Thr, XP_016862945.1:p.Ala647Thr, NP_001229243.1:p.Ala647Thr, XP_016862946.1:p.Ala498Thr, NP_001229246.1:p.Ala440Thr, XP_047305149.1:p.Ala647Thr

Select item 14792855268.

rs1479285526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:185473483 (GRCh38)
3:185191271 (GRCh37)
Canonical SPDI:: NC_000003.12:185473482:G:C
Gene:: MAP3K13 (Varview), LOC101929018 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185473483G>C, NC_000003.11:g.185191271G>C, NG_083215.1:g.533G>C, NM_004721.5:c.2152G>C, NM_004721.4:c.2152G>C, XM_011513310.3:c.2152G>C, XM_011513310.2:c.2152G>C, XM_011513310.1:c.2152G>C, XM_017007456.2:c.2152G>C, XM_017007456.1:c.2152G>C, NM_001242314.2:c.2152G>C, NM_001242314.1:c.2152G>C, XM_017007457.2:c.1705G>C, XM_017007457.1:c.1705G>C, NM_001242317.2:c.1531G>C, NM_001242317.1:c.1531G>C, XM_047449193.1:c.2152G>C, NP_004712.1:p.Ala718Pro, XP_011511612.1:p.Ala718Pro, XP_016862945.1:p.Ala718Pro, NP_001229243.1:p.Ala718Pro, XP_016862946.1:p.Ala569Pro, NP_001229246.1:p.Ala511Pro, XP_047305149.1:p.Ala718Pro

Select item 14767177139.

rs1476717713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:185473384 (GRCh38)
3:185191172 (GRCh37)
Canonical SPDI:: NC_000003.12:185473383:A:C
Gene:: MAP3K13 (Varview), LOC101929018 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant
HGVS:: NC_000003.12:g.185473384A>C, NC_000003.11:g.185191172A>C, NG_083215.1:g.434A>C, NM_004721.5:c.2053A>C, NM_004721.4:c.2053A>C, XM_011513310.3:c.2053A>C, XM_011513310.2:c.2053A>C, XM_011513310.1:c.2053A>C, XM_017007456.2:c.2053A>C, XM_017007456.1:c.2053A>C, NM_001242314.2:c.2053A>C, NM_001242314.1:c.2053A>C, XM_017007457.2:c.1606A>C, XM_017007457.1:c.1606A>C, NM_001242317.2:c.1432A>C, NM_001242317.1:c.1432A>C, XM_047449193.1:c.2053A>C, NP_004712.1:p.Asn685His, XP_011511612.1:p.Asn685His, XP_016862945.1:p.Asn685His, NP_001229243.1:p.Asn685His, XP_016862946.1:p.Asn536His, NP_001229246.1:p.Asn478His, XP_047305149.1:p.Asn685His

Select item 147642746210.

rs1476427462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185437497 (GRCh38)
3:185155285 (GRCh37)
Canonical SPDI:: NC_000003.12:185437496:A:G
Gene:: MAP3K13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000003.12:g.185437497A>G, NC_000003.11:g.185155285A>G, NM_004721.5:c.526A>G, NM_004721.4:c.526A>G, XM_011513310.3:c.526A>G, XM_011513310.2:c.526A>G, XM_011513310.1:c.526A>G, XM_017007456.2:c.526A>G, XM_017007456.1:c.526A>G, NM_001242314.2:c.526A>G, NM_001242314.1:c.526A>G, XM_017007457.2:c.79A>G, XM_017007457.1:c.79A>G, XM_047449193.1:c.526A>G, NP_004712.1:p.Ser176Gly, XP_011511612.1:p.Ser176Gly, XP_016862945.1:p.Ser176Gly, NP_001229243.1:p.Ser176Gly, XP_016862946.1:p.Ser27Gly, XP_047305149.1:p.Ser176Gly

Select item 147608514811.

rs1476085148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:185473358 (GRCh38)
3:185191146 (GRCh37)
Canonical SPDI:: NC_000003.12:185473357:C:G
Gene:: MAP3K13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.185473358C>G, NC_000003.11:g.185191146C>G, NG_083215.1:g.408C>G, NM_004721.5:c.2027C>G, NM_004721.4:c.2027C>G, XM_011513310.3:c.2027C>G, XM_011513310.2:c.2027C>G, XM_011513310.1:c.2027C>G, XM_017007456.2:c.2027C>G, XM_017007456.1:c.2027C>G, NM_001242314.2:c.2027C>G, NM_001242314.1:c.2027C>G, XM_017007457.2:c.1580C>G, XM_017007457.1:c.1580C>G, NM_001242317.2:c.1406C>G, NM_001242317.1:c.1406C>G, XM_047449193.1:c.2027C>G, NP_004712.1:p.Ala676Gly, XP_011511612.1:p.Ala676Gly, XP_016862945.1:p.Ala676Gly, NP_001229243.1:p.Ala676Gly, XP_016862946.1:p.Ala527Gly, NP_001229246.1:p.Ala469Gly, XP_047305149.1:p.Ala676Gly

Select item 147587826012.

rs1475878260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:185437602 (GRCh38)
3:185155390 (GRCh37)
Canonical SPDI:: NC_000003.12:185437601:T:C
Gene:: MAP3K13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185437602T>C, NC_000003.11:g.185155390T>C, NM_004721.5:c.631T>C, NM_004721.4:c.631T>C, XM_011513310.3:c.631T>C, XM_011513310.2:c.631T>C, XM_011513310.1:c.631T>C, XM_017007456.2:c.631T>C, XM_017007456.1:c.631T>C, NM_001242314.2:c.631T>C, NM_001242314.1:c.631T>C, XM_017007457.2:c.184T>C, XM_017007457.1:c.184T>C, XM_047449193.1:c.631T>C

Select item 147482266713.

rs1474822667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:185428701 (GRCh38)
3:185146489 (GRCh37)
Canonical SPDI:: NC_000003.12:185428700:C:G
Gene:: MAP3K13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.185428701C>G, NC_000003.11:g.185146489C>G, NM_004721.5:c.120C>G, NM_004721.4:c.120C>G, XM_011513310.3:c.120C>G, XM_011513310.2:c.120C>G, XM_011513310.1:c.120C>G, XM_017007456.2:c.120C>G, XM_017007456.1:c.120C>G, NM_001242314.2:c.120C>G, NM_001242314.1:c.120C>G, XM_047449193.1:c.120C>G

Select item 147270320314.

rs1472703203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185473088 (GRCh38)
3:185190876 (GRCh37)
Canonical SPDI:: NC_000003.12:185473087:G:A
Gene:: MAP3K13 (Varview), LOC124906312 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185473088G>A, NC_000003.11:g.185190876G>A, NG_083215.1:g.138G>A, NM_004721.5:c.1757G>A, NM_004721.4:c.1757G>A, XM_011513310.3:c.1757G>A, XM_011513310.2:c.1757G>A, XM_011513310.1:c.1757G>A, XM_017007456.2:c.1757G>A, XM_017007456.1:c.1757G>A, NM_001242314.2:c.1757G>A, NM_001242314.1:c.1757G>A, XM_017007457.2:c.1310G>A, XM_017007457.1:c.1310G>A, NM_001242317.2:c.1136G>A, NM_001242317.1:c.1136G>A, XM_047449193.1:c.1757G>A, NP_004712.1:p.Ser586Asn, XP_011511612.1:p.Ser586Asn, XP_016862945.1:p.Ser586Asn, NP_001229243.1:p.Ser586Asn, XP_016862946.1:p.Ser437Asn, NP_001229246.1:p.Ser379Asn, XP_047305149.1:p.Ser586Asn

Select item 147044906215.

rs1470449062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:185480360 (GRCh38)
3:185198148 (GRCh37)
Canonical SPDI:: NC_000003.12:185480359:T:C
Gene:: MAP3K13 (Varview), LOC101929018 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185480360T>C, NC_000003.11:g.185198148T>C, NG_083216.1:g.433T>C, NM_004721.5:c.2630T>C, NM_004721.4:c.2630T>C, XM_011513310.3:c.2630T>C, XM_011513310.2:c.2630T>C, XM_011513310.1:c.2630T>C, XM_017007456.2:c.2630T>C, XM_017007456.1:c.2630T>C, NM_001242314.2:c.2630T>C, NM_001242314.1:c.2630T>C, XM_017007457.2:c.2183T>C, XM_017007457.1:c.2183T>C, NM_001242317.2:c.2009T>C, NM_001242317.1:c.2009T>C, XM_047449193.1:c.2630T>C, XR_007096198.1:n.732A>G, NP_004712.1:p.Leu877Pro, XP_011511612.1:p.Leu877Pro, XP_016862945.1:p.Leu877Pro, NP_001229243.1:p.Leu877Pro, XP_016862946.1:p.Leu728Pro, NP_001229246.1:p.Leu670Pro, XP_047305149.1:p.Leu877Pro

Select item 146955013516.

rs1469550135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:185473725 (GRCh38)
3:185191513 (GRCh37)
Canonical SPDI:: NC_000003.12:185473724:T:A
Gene:: MAP3K13 (Varview), LOC101929018 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185473725T>A, NC_000003.11:g.185191513T>A, NG_083215.1:g.775T>A, NM_004721.5:c.2394T>A, NM_004721.4:c.2394T>A, XM_011513310.3:c.2394T>A, XM_011513310.2:c.2394T>A, XM_011513310.1:c.2394T>A, XM_017007456.2:c.2394T>A, XM_017007456.1:c.2394T>A, NM_001242314.2:c.2394T>A, NM_001242314.1:c.2394T>A, XM_017007457.2:c.1947T>A, XM_017007457.1:c.1947T>A, NM_001242317.2:c.1773T>A, NM_001242317.1:c.1773T>A, XM_047449193.1:c.2394T>A

Select item 146673674917.

rs1466736749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:185473302 (GRCh38)
3:185191090 (GRCh37)
Canonical SPDI:: NC_000003.12:185473301:T:C
Gene:: MAP3K13 (Varview), LOC124906312 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185473302T>C, NC_000003.11:g.185191090T>C, NG_083215.1:g.352T>C, NM_004721.5:c.1971T>C, NM_004721.4:c.1971T>C, XM_011513310.3:c.1971T>C, XM_011513310.2:c.1971T>C, XM_011513310.1:c.1971T>C, XM_017007456.2:c.1971T>C, XM_017007456.1:c.1971T>C, NM_001242314.2:c.1971T>C, NM_001242314.1:c.1971T>C, XM_017007457.2:c.1524T>C, XM_017007457.1:c.1524T>C, NM_001242317.2:c.1350T>C, NM_001242317.1:c.1350T>C, XM_047449193.1:c.1971T>C

Select item 146581609118.

rs1465816091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:185465827 (GRCh38)
3:185183615 (GRCh37)
Canonical SPDI:: NC_000003.12:185465826:T:C
Gene:: MAP3K13 (Varview), LOC124906312 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185465827T>C, NC_000003.11:g.185183615T>C, NM_004721.5:c.1469T>C, NM_004721.4:c.1469T>C, XM_011513310.3:c.1469T>C, XM_011513310.2:c.1469T>C, XM_011513310.1:c.1469T>C, XM_017007456.2:c.1469T>C, XM_017007456.1:c.1469T>C, NM_001242314.2:c.1469T>C, NM_001242314.1:c.1469T>C, XM_017007457.2:c.1022T>C, XM_017007457.1:c.1022T>C, NM_001242317.2:c.848T>C, NM_001242317.1:c.848T>C, XM_047449193.1:c.1469T>C, NP_004712.1:p.Met490Thr, XP_011511612.1:p.Met490Thr, XP_016862945.1:p.Met490Thr, NP_001229243.1:p.Met490Thr, XP_016862946.1:p.Met341Thr, NP_001229246.1:p.Met283Thr, XP_047305149.1:p.Met490Thr

Select item 146576494119.

rs1465764941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185465790 (GRCh38)
3:185183578 (GRCh37)
Canonical SPDI:: NC_000003.12:185465789:C:T
Gene:: MAP3K13 (Varview), LOC124906312 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185465790C>T, NC_000003.11:g.185183578C>T, NM_004721.5:c.1432C>T, NM_004721.4:c.1432C>T, XM_011513310.3:c.1432C>T, XM_011513310.2:c.1432C>T, XM_011513310.1:c.1432C>T, XM_017007456.2:c.1432C>T, XM_017007456.1:c.1432C>T, NM_001242314.2:c.1432C>T, NM_001242314.1:c.1432C>T, XM_017007457.2:c.985C>T, XM_017007457.1:c.985C>T, NM_001242317.2:c.811C>T, NM_001242317.1:c.811C>T, XM_047449193.1:c.1432C>T, NP_004712.1:p.Arg478Trp, XP_011511612.1:p.Arg478Trp, XP_016862945.1:p.Arg478Trp, NP_001229243.1:p.Arg478Trp, XP_016862946.1:p.Arg329Trp, NP_001229246.1:p.Arg271Trp, XP_047305149.1:p.Arg478Trp

Select item 146553312920.

rs1465533129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:185451377 (GRCh38)
3:185169165 (GRCh37)
Canonical SPDI:: NC_000003.12:185451376:A:C
Gene:: MAP3K13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185451377A>C, NC_000003.11:g.185169165A>C, NM_004721.5:c.1260A>C, NM_004721.4:c.1260A>C, XM_011513310.3:c.1260A>C, XM_011513310.2:c.1260A>C, XM_011513310.1:c.1260A>C, XM_017007456.2:c.1260A>C, XM_017007456.1:c.1260A>C, NM_001242314.2:c.1260A>C, NM_001242314.1:c.1260A>C, XM_017007457.2:c.813A>C, XM_017007457.1:c.813A>C, NM_001242317.2:c.639A>C, NM_001242317.1:c.639A>C, XM_047449193.1:c.1260A>C, NP_004712.1:p.Glu420Asp, XP_011511612.1:p.Glu420Asp, XP_016862945.1:p.Glu420Asp, NP_001229243.1:p.Glu420Asp, XP_016862946.1:p.Glu271Asp, NP_001229246.1:p.Glu213Asp, XP_047305149.1:p.Glu420Asp

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