Linked Data
ClinVar Variation Id:
217593
dbSNP Id:
rs863225167
gnomAD v3:
5-37239730-T-G
gnomAD v4:
5-37239730-T-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37239730T>G , CM000667.2:g.37239730T>G | GRCh38 |
| NC_000005.9:g.37239832T>G , CM000667.1:g.37239832T>G | GRCh37 |
| NC_000005.8:g.37275589T>G | NCBI36 |
| NG_032772.1:g.14699A>C | |
| NG_032772.2:g.14699A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.7:c.493A>C | ||
| ENST00000651892.2:c.817A>C MANE Select | ENSP00000498265.2:p.Asn273His | |
| ENST00000675547.1:n.887A>C | ||
| ENST00000676290.1:n.835A>C | ||
| ENST00000425232.6:c.817A>C | ENSP00000389014.2:p.Asn273His | |
| ENST00000508244.5:c.817A>C | ENSP00000421690.1:p.Asn273His | |
| NM_023073.3:c.817A>C | NP_075561.3:p.Asn273His | |
| XM_005248345.2:c.817A>C | XP_005248402.1:p.Asn273His | |
| XM_005248346.2:c.817A>C | XP_005248403.1:p.Asn273His | |
| XM_005248347.2:c.817A>C | XP_005248404.1:p.Asn273His | |
| XM_005248349.2:c.817A>C | XP_005248406.1:p.Asn273His | |
| XM_005248350.2:c.817A>C | XP_005248407.1:p.Asn273His | |
| XM_006714489.2:c.817A>C | XP_006714552.1:p.Asn273His | |
| XM_011514085.1:c.817A>C | XP_011512387.1:p.Asn273His | |
| XM_011514086.1:c.817A>C | XP_011512388.1:p.Asn273His | |
| XM_011514087.1:c.817A>C | XP_011512389.1:p.Asn273His | |
| XM_011514088.1:c.817A>C | XP_011512390.1:p.Asn273His | |
| XM_011514089.1:c.817A>C | XP_011512391.1:p.Asn273His | |
| XM_011514090.1:c.499A>C | XP_011512392.1:p.Asn167His | |
| XM_011514091.1:c.145A>C | XP_011512393.1:p.Asn49His | |
| XM_011514092.1:c.817A>C | XP_011512394.1:p.Asn273His | |
| XM_011514093.1:c.817A>C | XP_011512395.1:p.Asn273His | |
| XR_427661.2:n.992A>C | ||
| XR_925644.1:n.992A>C | ||
| XM_005248345.4:c.817A>C | XP_005248402.1:p.Asn273His | |
| XM_005248346.4:c.817A>C | XP_005248403.1:p.Asn273His | |
| XM_005248347.4:c.817A>C | XP_005248404.1:p.Asn273His | |
| XM_005248349.4:c.817A>C | XP_005248406.1:p.Asn273His | |
| XM_005248350.4:c.817A>C | XP_005248407.1:p.Asn273His | |
| XM_011514085.3:c.817A>C | XP_011512387.1:p.Asn273His | |
| XM_011514086.3:c.817A>C | XP_011512388.1:p.Asn273His | |
| XM_011514087.2:c.817A>C | XP_011512389.1:p.Asn273His | |
| XM_011514088.2:c.817A>C | XP_011512390.1:p.Asn273His | |
| XM_011514089.2:c.817A>C | XP_011512391.1:p.Asn273His | |
| XM_011514090.3:c.499A>C | XP_011512392.1:p.Asn167His | |
| XM_011514092.2:c.817A>C | XP_011512394.1:p.Asn273His | |
| XM_017009760.1:c.628A>C | XP_016865249.1:p.Asn210His | |
| XM_017009761.2:c.628A>C | XP_016865250.1:p.Asn210His | |
| XM_017009763.1:c.-177A>C | XP_016865252.1:n.-177A>C | |
| XM_017009765.1:c.-429A>C | XP_016865254.1:n.-429A>C | |
| XM_024446183.1:c.628A>C | XP_024301951.1:p.Asn210His | |
| XM_024446184.1:c.499A>C | XP_024301952.1:p.Asn167His | |
| XM_024446185.1:c.145A>C | XP_024301953.1:p.Asn49His | |
| XM_024446186.1:c.-177A>C | XP_024301954.1:n.-177A>C | |
| XR_001742208.1:n.1041A>C | ||
| XR_002956171.1:n.1041A>C | ||
| XR_925644.2:n.1041A>C | ||
| NM_001384732.1:c.817A>C MANE Select | NP_001371661.1:p.Asn273His | |
| NM_023073.4:c.817A>C | NP_075561.3:p.Asn273His |