Linked Data
dbSNP Id:
rs778097553
ExAC:
1:9324192 G / A
gnomAD v2:
1-9324192-G-A
gnomAD v4:
1-9264133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9264133G>A , CM000663.2:g.9264133G>A | GRCh38 |
| NC_000001.10:g.9324192G>A , CM000663.1:g.9324192G>A | GRCh37 |
| NC_000001.9:g.9246779G>A | NCBI36 |
| NG_012218.1:g.34330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377403.7:c.1640G>A MANE Select | ENSP00000366620.2:p.Arg547Lys | |
| ENST00000377403.6:c.1640G>A | ENSP00000366620.1:p.Arg547Lys | |
| ENST00000602477.1:c.1673G>A | ENSP00000473348.1:p.Arg558Lys | |
| NM_001282587.1:c.1673G>A | NP_001269516.1:p.Arg558Lys | |
| NM_004285.3:c.1640G>A | NP_004276.2:p.Arg547Lys | |
| XM_005263539.3:c.1673G>A | XP_005263596.1:p.Arg558Lys | |
| XM_005263540.3:c.1667G>A | XP_005263597.1:p.Arg556Lys | |
| XM_006711052.2:c.1640G>A | XP_006711115.1:p.Arg547Lys | |
| XM_011542446.1:c.1640G>A | XP_011540748.1:p.Arg547Lys | |
| XM_005263540.5:c.1667G>A | XP_005263597.1:p.Arg556Lys | |
| XM_006711052.4:c.1640G>A | XP_006711115.1:p.Arg547Lys | |
| XM_017002865.2:c.1640G>A | XP_016858354.1:p.Arg547Lys | |
| XM_017002866.2:c.572G>A | XP_016858355.1:p.Arg191Lys | |
| NM_001282587.2:c.1673G>A | NP_001269516.1:p.Arg558Lys | |
| NM_004285.4:c.1640G>A MANE Select | NP_004276.2:p.Arg547Lys |