Linked Data
dbSNP Id:
rs201891002
ExAC:
11:113270025 G / A
gnomAD v2:
11-113270025-G-A
gnomAD v3:
11-113399303-G-A
gnomAD v4:
11-113399303-G-A
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399303G>A , CM000673.2:g.113399303G>A | GRCh38 |
| NC_000011.9:g.113270025G>A , CM000673.1:g.113270025G>A | GRCh37 |
| NC_000011.8:g.112775235G>A | NCBI36 |
| NG_012976.1:g.16513G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303941.4:c.1334G>A MANE Select | ENSP00000306678.3:p.Arg445His | |
| ENST00000303941.3:c.1334G>A | ENSP00000306678.3:p.Arg445His | |
| NM_178510.1:c.1334G>A | NP_848605.1:p.Arg445His | |
| XM_011542736.1:c.1367G>A | XP_011541038.1:p.Arg456His | |
| XM_011542737.1:c.1337G>A | XP_011541039.1:p.Arg446His | |
| XM_011542738.1:c.1145G>A | XP_011541040.1:p.Arg382His | |
| XM_011542736.2:c.1367G>A | XP_011541038.1:p.Arg456His | |
| XM_011542737.2:c.1337G>A | XP_011541039.1:p.Arg446His | |
| XM_011542738.2:c.1145G>A | XP_011541040.1:p.Arg382His | |
| XM_017017475.1:c.1364G>A | XP_016872964.1:p.Arg455His | |
| NM_178510.2:c.1334G>A MANE Select | NP_848605.1:p.Arg445His |