SNP Links for Protein (Select 15451902) - SNP

Links from Protein

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Select item 14907306051.

rs1490730605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:39436912 (GRCh38)
2:39664053 (GRCh37)
Canonical SPDI:: NC_000002.12:39436911:T:A
Gene:: MAP4K3 (Varview), MAP4K3-DT (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39436912T>A, NC_000002.11:g.39664053T>A, NG_028007.1:g.5167A>T, NM_003618.4:c.76A>T, NM_003618.3:c.76A>T, NM_001270425.2:c.76A>T, NM_001270425.1:c.76A>T, XM_047446092.1:c.-56A>T, XM_047446093.1:c.-56A>T, NM_001410753.1:c.-56A>T, XM_047446091.1:c.76A>T, NP_003609.2:p.Thr26Ser, NP_001257354.1:p.Thr26Ser, XP_047302047.1:p.Thr26Ser

Select item 14901217122.

rs1490121712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:39272369 (GRCh38)
2:39499510 (GRCh37)
Canonical SPDI:: NC_000002.12:39272368:T:C,NC_000002.12:39272368:T:G
Gene:: MAP4K3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.39272369T>C, NC_000002.12:g.39272369T>G, NC_000002.11:g.39499510T>C, NC_000002.11:g.39499510T>G, NG_028007.1:g.169710A>G, NG_028007.1:g.169710A>C, NM_003618.4:c.1887A>G, NM_003618.4:c.1887A>C, NM_003618.3:c.1887A>G, NM_003618.3:c.1887A>C, NM_001270425.2:c.1824A>G, NM_001270425.2:c.1824A>C, NM_001270425.1:c.1824A>G, NM_001270425.1:c.1824A>C, XM_024453183.2:c.546A>G, XM_024453183.2:c.546A>C, XM_024453183.1:c.546A>G, XM_024453183.1:c.546A>C, XM_047446092.1:c.1698A>G, XM_047446092.1:c.1698A>C, XM_047446093.1:c.1635A>G, XM_047446093.1:c.1635A>C, NM_001410753.1:c.1635A>G, NM_001410753.1:c.1635A>C, XM_047446091.1:c.1887A>G, XM_047446091.1:c.1887A>C, NP_003609.2:p.Leu629Phe, NP_001257354.1:p.Leu608Phe, XP_024308951.1:p.Leu182Phe, XP_047302048.1:p.Leu566Phe, XP_047302049.1:p.Leu545Phe, XP_047302047.1:p.Leu629Phe

Select item 14895475163.

rs1489547516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39325573 (GRCh38)
2:39552714 (GRCh37)
Canonical SPDI:: NC_000002.12:39325572:T:C
Gene:: MAP4K3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39325573T>C, NC_000002.11:g.39552714T>C, NG_028007.1:g.116506A>G, NM_003618.4:c.863A>G, NM_003618.3:c.863A>G, NM_001270425.2:c.863A>G, NM_001270425.1:c.863A>G, XM_047446092.1:c.674A>G, XM_047446093.1:c.674A>G, NM_001410753.1:c.674A>G, XM_047446091.1:c.863A>G, NP_003609.2:p.Lys288Arg, NP_001257354.1:p.Lys288Arg, XP_047302048.1:p.Lys225Arg, XP_047302049.1:p.Lys225Arg, XP_047302047.1:p.Lys288Arg

Select item 14876386364.

rs1487638636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39258534 (GRCh38)
2:39485675 (GRCh37)
Canonical SPDI:: NC_000002.12:39258533:G:A
Gene:: MAP4K3 (Varview)
Functional Consequence:: missense_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_000002.12:g.39258534G>A, NC_000002.11:g.39485675G>A, NG_028007.1:g.183545C>T, NM_003618.4:c.2362C>T, NM_003618.3:c.2362C>T, NM_001270425.2:c.2299C>T, NM_001270425.1:c.2299C>T, XM_024453183.2:c.1021C>T, XM_024453183.1:c.1021C>T, XM_047446092.1:c.2173C>T, XM_047446093.1:c.2110C>T, NM_001410753.1:c.2110C>T, XM_047446091.1:c.2362C>T, NP_003609.2:p.Leu788Phe, NP_001257354.1:p.Leu767Phe, XP_024308951.1:p.Leu341Phe, XP_047302048.1:p.Leu725Phe, XP_047302049.1:p.Leu704Phe, XP_047302047.1:p.Leu788Phe

Select item 14863149785.

rs1486314978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:39290331 (GRCh38)
2:39517472 (GRCh37)
Canonical SPDI:: NC_000002.12:39290330:T:A
Gene:: MAP4K3 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39290331T>A, NC_000002.11:g.39517472T>A, NG_028007.1:g.151748A>T, NM_003618.4:c.1275A>T, NM_003618.3:c.1275A>T, NM_001270425.2:c.1212A>T, NM_001270425.1:c.1212A>T, XM_024453183.2:c.-67A>T, XM_024453183.1:c.-67A>T, XM_047446092.1:c.1086A>T, XM_047446093.1:c.1023A>T, NM_001410753.1:c.1023A>T, XM_047446091.1:c.1275A>T

Select item 14857879746.

rs1485787974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39315352 (GRCh38)
2:39542493 (GRCh37)
Canonical SPDI:: NC_000002.12:39315351:T:C
Gene:: MAP4K3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.39315352T>C, NC_000002.11:g.39542493T>C, NG_028007.1:g.126727A>G, NM_003618.4:c.955A>G, NM_003618.3:c.955A>G, NM_001270425.2:c.955A>G, NM_001270425.1:c.955A>G, XM_047446092.1:c.766A>G, XM_047446093.1:c.766A>G, NM_001410753.1:c.766A>G, XM_047446091.1:c.955A>G, NP_003609.2:p.Ser319Gly, NP_001257354.1:p.Ser319Gly, XP_047302048.1:p.Ser256Gly, XP_047302049.1:p.Ser256Gly, XP_047302047.1:p.Ser319Gly

Select item 14853586607.

rs1485358660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:39436950 (GRCh38)
2:39664091 (GRCh37)
Canonical SPDI:: NC_000002.12:39436949:T:A
Gene:: MAP4K3 (Varview), MAP4K3-DT (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39436950T>A, NC_000002.11:g.39664091T>A, NG_028007.1:g.5129A>T, NM_003618.4:c.38A>T, NM_003618.3:c.38A>T, NM_001270425.2:c.38A>T, NM_001270425.1:c.38A>T, XM_047446092.1:c.-94A>T, XM_047446093.1:c.-94A>T, NM_001410753.1:c.-94A>T, XM_047446091.1:c.38A>T, NP_003609.2:p.Gln13Leu, NP_001257354.1:p.Gln13Leu, XP_047302047.1:p.Gln13Leu

Select item 14849693978.

rs1484969397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:39258525 (GRCh38)
2:39485666 (GRCh37)
Canonical SPDI:: NC_000002.12:39258524:A:C,NC_000002.12:39258524:A:G
Gene:: MAP4K3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
G=0.000389/7 (TOMMO)
HGVS:: NC_000002.12:g.39258525A>C, NC_000002.12:g.39258525A>G, NC_000002.11:g.39485666A>C, NC_000002.11:g.39485666A>G, NG_028007.1:g.183554T>G, NG_028007.1:g.183554T>C, NM_003618.4:c.2371T>G, NM_003618.4:c.2371T>C, NM_003618.3:c.2371T>G, NM_003618.3:c.2371T>C, NM_001270425.2:c.2308T>G, NM_001270425.2:c.2308T>C, NM_001270425.1:c.2308T>G, NM_001270425.1:c.2308T>C, XM_024453183.2:c.1030T>G, XM_024453183.2:c.1030T>C, XM_024453183.1:c.1030T>G, XM_024453183.1:c.1030T>C, XM_047446092.1:c.2182T>G, XM_047446092.1:c.2182T>C, XM_047446093.1:c.2119T>G, XM_047446093.1:c.2119T>C, NM_001410753.1:c.2119T>G, NM_001410753.1:c.2119T>C, XM_047446091.1:c.2371T>G, XM_047446091.1:c.2371T>C, NP_003609.2:p.Leu791Val, NP_001257354.1:p.Leu770Val, XP_024308951.1:p.Leu344Val, XP_047302048.1:p.Leu728Val, XP_047302049.1:p.Leu707Val, XP_047302047.1:p.Leu791Val

Select item 14829228189.

rs1482922818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39258435 (GRCh38)
2:39485576 (GRCh37)
Canonical SPDI:: NC_000002.12:39258434:T:C
Gene:: MAP4K3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39258435T>C, NC_000002.11:g.39485576T>C, NG_028007.1:g.183644A>G, NM_003618.4:c.2383A>G, NM_003618.3:c.2383A>G, NM_001270425.2:c.2320A>G, NM_001270425.1:c.2320A>G, XM_024453183.2:c.1042A>G, XM_024453183.1:c.1042A>G, XM_047446092.1:c.2194A>G, XM_047446093.1:c.2131A>G, NM_001410753.1:c.2131A>G, XM_047446091.1:c.2383A>G, NP_003609.2:p.Ile795Val, NP_001257354.1:p.Ile774Val, XP_024308951.1:p.Ile348Val, XP_047302048.1:p.Ile732Val, XP_047302049.1:p.Ile711Val, XP_047302047.1:p.Ile795Val

Select item 147912212610.

rs1479122126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39326208 (GRCh38)
2:39553349 (GRCh37)
Canonical SPDI:: NC_000002.12:39326207:C:T
Gene:: MAP4K3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39326208C>T, NC_000002.11:g.39553349C>T, NG_028007.1:g.115871G>A, NM_003618.4:c.600G>A, NM_003618.3:c.600G>A, NM_001270425.2:c.600G>A, NM_001270425.1:c.600G>A, XM_047446092.1:c.411G>A, XM_047446093.1:c.411G>A, NM_001410753.1:c.411G>A, XM_047446091.1:c.600G>A

Select item 147860190411.

rs1478601904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:39286952 (GRCh38)
2:39514093 (GRCh37)
Canonical SPDI:: NC_000002.12:39286951:C:G,NC_000002.12:39286951:C:T
Gene:: MAP4K3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0003/1 (KOREAN)
HGVS:: NC_000002.12:g.39286952C>G, NC_000002.12:g.39286952C>T, NC_000002.11:g.39514093C>G, NC_000002.11:g.39514093C>T, NG_028007.1:g.155127G>C, NG_028007.1:g.155127G>A, NM_003618.4:c.1487G>C, NM_003618.4:c.1487G>A, NM_003618.3:c.1487G>C, NM_003618.3:c.1487G>A, NM_001270425.2:c.1424G>C, NM_001270425.2:c.1424G>A, NM_001270425.1:c.1424G>C, NM_001270425.1:c.1424G>A, XM_024453183.2:c.146G>C, XM_024453183.2:c.146G>A, XM_024453183.1:c.146G>C, XM_024453183.1:c.146G>A, XM_047446092.1:c.1298G>C, XM_047446092.1:c.1298G>A, XM_047446093.1:c.1235G>C, XM_047446093.1:c.1235G>A, NM_001410753.1:c.1235G>C, NM_001410753.1:c.1235G>A, XM_047446091.1:c.1487G>C, XM_047446091.1:c.1487G>A, NP_003609.2:p.Ser496Thr, NP_003609.2:p.Ser496Asn, NP_001257354.1:p.Ser475Thr, NP_001257354.1:p.Ser475Asn, XP_024308951.1:p.Ser49Thr, XP_024308951.1:p.Ser49Asn, XP_047302048.1:p.Ser433Thr, XP_047302048.1:p.Ser433Asn, XP_047302049.1:p.Ser412Thr, XP_047302049.1:p.Ser412Asn, XP_047302047.1:p.Ser496Thr, XP_047302047.1:p.Ser496Asn

Select item 147798878412.

rs1477988784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:39436939 (GRCh38)
2:39664080 (GRCh37)
Canonical SPDI:: NC_000002.12:39436938:C:A,NC_000002.12:39436938:C:T
Gene:: MAP4K3 (Varview), MAP4K3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39436939C>A, NC_000002.12:g.39436939C>T, NC_000002.11:g.39664080C>A, NC_000002.11:g.39664080C>T, NG_028007.1:g.5140G>T, NG_028007.1:g.5140G>A, NM_003618.4:c.49G>T, NM_003618.4:c.49G>A, NM_003618.3:c.49G>T, NM_003618.3:c.49G>A, NM_001270425.2:c.49G>T, NM_001270425.2:c.49G>A, NM_001270425.1:c.49G>T, NM_001270425.1:c.49G>A, XM_047446092.1:c.-83G>T, XM_047446092.1:c.-83G>A, XM_047446093.1:c.-83G>T, XM_047446093.1:c.-83G>A, NM_001410753.1:c.-83G>T, NM_001410753.1:c.-83G>A, XM_047446091.1:c.49G>T, XM_047446091.1:c.49G>A, NP_003609.2:p.Glu17Ter, NP_003609.2:p.Glu17Lys, NP_001257354.1:p.Glu17Ter, NP_001257354.1:p.Glu17Lys, XP_047302047.1:p.Glu17Ter, XP_047302047.1:p.Glu17Lys

Select item 147731003513.

rs1477310035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39343432 (GRCh38)
2:39570573 (GRCh37)
Canonical SPDI:: NC_000002.12:39343431:C:T
Gene:: MAP4K3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39343432C>T, NC_000002.11:g.39570573C>T, NG_028007.1:g.98647G>A, NM_003618.4:c.266G>A, NM_003618.3:c.266G>A, NM_001270425.2:c.266G>A, NM_001270425.1:c.266G>A, XM_047446092.1:c.77G>A, XM_047446093.1:c.77G>A, NM_001410753.1:c.77G>A, XM_047446091.1:c.266G>A, NP_003609.2:p.Cys89Tyr, NP_001257354.1:p.Cys89Tyr, XP_047302048.1:p.Cys26Tyr, XP_047302049.1:p.Cys26Tyr, XP_047302047.1:p.Cys89Tyr

Select item 147663776814.

rs1476637768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39254460 (GRCh38)
2:39481601 (GRCh37)
Canonical SPDI:: NC_000002.12:39254459:C:T
Gene:: MAP4K3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39254460C>T, NC_000002.11:g.39481601C>T, NG_028007.1:g.187619G>A, NM_003618.4:c.2531G>A, NM_003618.3:c.2531G>A, NM_001270425.2:c.2468G>A, NM_001270425.1:c.2468G>A, XM_024453183.2:c.1190G>A, XM_024453183.1:c.1190G>A, XM_047446092.1:c.2342G>A, XM_047446093.1:c.2279G>A, NM_001410753.1:c.2279G>A, XM_047446091.1:c.*9G>A, NP_003609.2:p.Arg844Lys, NP_001257354.1:p.Arg823Lys, XP_024308951.1:p.Arg397Lys, XP_047302048.1:p.Arg781Lys, XP_047302049.1:p.Arg760Lys

Select item 147533047815.

rs1475330478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39333554 (GRCh38)
2:39560695 (GRCh37)
Canonical SPDI:: NC_000002.12:39333553:C:T
Gene:: MAP4K3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39333554C>T, NC_000002.11:g.39560695C>T, NG_028007.1:g.108525G>A, NM_003618.4:c.435G>A, NM_003618.3:c.435G>A, NM_001270425.2:c.435G>A, NM_001270425.1:c.435G>A, XM_047446092.1:c.246G>A, XM_047446093.1:c.246G>A, NM_001410753.1:c.246G>A, XM_047446091.1:c.435G>A

Select item 147438397916.

rs1474383979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:39272329 (GRCh38)
2:39499470 (GRCh37)
Canonical SPDI:: NC_000002.12:39272328:G:C
Gene:: MAP4K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.39272329G>C, NC_000002.11:g.39499470G>C, NG_028007.1:g.169750C>G, NM_003618.4:c.1927C>G, NM_003618.3:c.1927C>G, NM_001270425.2:c.1864C>G, NM_001270425.1:c.1864C>G, XM_024453183.2:c.586C>G, XM_024453183.1:c.586C>G, XM_047446092.1:c.1738C>G, XM_047446093.1:c.1675C>G, NM_001410753.1:c.1675C>G, XM_047446091.1:c.1927C>G, NP_003609.2:p.Pro643Ala, NP_001257354.1:p.Pro622Ala, XP_024308951.1:p.Pro196Ala, XP_047302048.1:p.Pro580Ala, XP_047302049.1:p.Pro559Ala, XP_047302047.1:p.Pro643Ala

Select item 147339617517.

rs1473396175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:39258566 (GRCh38)
2:39485707 (GRCh37)
Canonical SPDI:: NC_000002.12:39258565:G:C
Gene:: MAP4K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.39258566G>C, NC_000002.11:g.39485707G>C, NG_028007.1:g.183513C>G, NM_003618.4:c.2330C>G, NM_003618.3:c.2330C>G, NM_001270425.2:c.2267C>G, NM_001270425.1:c.2267C>G, XM_024453183.2:c.989C>G, XM_024453183.1:c.989C>G, XM_047446092.1:c.2141C>G, XM_047446093.1:c.2078C>G, NM_001410753.1:c.2078C>G, XM_047446091.1:c.2330C>G, NP_003609.2:p.Thr777Ser, NP_001257354.1:p.Thr756Ser, XP_024308951.1:p.Thr330Ser, XP_047302048.1:p.Thr714Ser, XP_047302049.1:p.Thr693Ser, XP_047302047.1:p.Thr777Ser

Select item 147216094318.

rs1472160943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39254461 (GRCh38)
2:39481602 (GRCh37)
Canonical SPDI:: NC_000002.12:39254460:T:C
Gene:: MAP4K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.39254461T>C, NC_000002.11:g.39481602T>C, NG_028007.1:g.187618A>G, NM_003618.4:c.2530A>G, NM_003618.3:c.2530A>G, NM_001270425.2:c.2467A>G, NM_001270425.1:c.2467A>G, XM_024453183.2:c.1189A>G, XM_024453183.1:c.1189A>G, XM_047446092.1:c.2341A>G, XM_047446093.1:c.2278A>G, NM_001410753.1:c.2278A>G, XM_047446091.1:c.*8A>G, NP_003609.2:p.Arg844Gly, NP_001257354.1:p.Arg823Gly, XP_024308951.1:p.Arg397Gly, XP_047302048.1:p.Arg781Gly, XP_047302049.1:p.Arg760Gly

Select item 147043765319.

rs1470437653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:39260674 (GRCh38)
2:39487815 (GRCh37)
Canonical SPDI:: NC_000002.12:39260673:T:A
Gene:: MAP4K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.39260674T>A, NC_000002.11:g.39487815T>A, NG_028007.1:g.181405A>T, NM_003618.4:c.2240A>T, NM_003618.3:c.2240A>T, NM_001270425.2:c.2177A>T, NM_001270425.1:c.2177A>T, XM_024453183.2:c.899A>T, XM_024453183.1:c.899A>T, XM_047446092.1:c.2051A>T, XM_047446093.1:c.1988A>T, NM_001410753.1:c.1988A>T, XM_047446091.1:c.2240A>T, NP_003609.2:p.Asp747Val, NP_001257354.1:p.Asp726Val, XP_024308951.1:p.Asp300Val, XP_047302048.1:p.Asp684Val, XP_047302049.1:p.Asp663Val, XP_047302047.1:p.Asp747Val

Select item 146874289420.

rs1468742894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:39260698 (GRCh38)
2:39487839 (GRCh37)
Canonical SPDI:: NC_000002.12:39260697:C:A
Gene:: MAP4K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39260698C>A, NC_000002.11:g.39487839C>A, NG_028007.1:g.181381G>T, NM_003618.4:c.2216G>T, NM_003618.3:c.2216G>T, NM_001270425.2:c.2153G>T, NM_001270425.1:c.2153G>T, XM_024453183.2:c.875G>T, XM_024453183.1:c.875G>T, XM_047446092.1:c.2027G>T, XM_047446093.1:c.1964G>T, NM_001410753.1:c.1964G>T, XM_047446091.1:c.2216G>T, NP_003609.2:p.Cys739Phe, NP_001257354.1:p.Cys718Phe, XP_024308951.1:p.Cys292Phe, XP_047302048.1:p.Cys676Phe, XP_047302049.1:p.Cys655Phe, XP_047302047.1:p.Cys739Phe

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