Linked Data
ClinVar Variation Id:
3010624
ClinVar RCV Id:
RCV003862263
dbSNP Id:
rs1482006228
gnomAD v2:
16-3779684-G-A
gnomAD v3:
16-3729683-G-A
gnomAD v4:
16-3729683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729683G>A , CM000678.2:g.3729683G>A | GRCh38 |
| NC_000016.9:g.3779684G>A , CM000678.1:g.3779684G>A | GRCh37 |
| NC_000016.8:g.3719685G>A | NCBI36 |
| NG_009873.1:g.155438C>T | |
| NG_009873.2:g.156031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5364C>T MANE Select | ENSP00000262367.5:p.Ala1788= | |
| ENST00000262367.9:c.5364C>T | ENSP00000262367.5:p.Ala1788= | |
| ENST00000382070.7:c.5250C>T | ENSP00000371502.3:p.Ala1750= | |
| NM_001079846.1:c.5250C>T | NP_001073315.1:p.Ala1750= | |
| NM_004380.2:c.5364C>T | NP_004371.2:p.Ala1788= | |
| XM_005255124.3:c.5319C>T | XP_005255181.1:p.Ala1773= | |
| XM_005255125.3:c.4947C>T | XP_005255182.1:p.Ala1649= | |
| XM_006720848.2:c.5103C>T | XP_006720911.1:p.Ala1701= | |
| XM_011522380.1:c.5310C>T | XP_011520682.1:p.Ala1770= | |
| XM_011522381.1:c.4611C>T | XP_011520683.1:p.Ala1537= | |
| XM_005255124.4:c.5319C>T | XP_005255181.1:p.Ala1773= | |
| XM_005255125.4:c.4947C>T | XP_005255182.1:p.Ala1649= | |
| XM_006720848.3:c.5103C>T | XP_006720911.1:p.Ala1701= | |
| XM_011522381.2:c.4611C>T | XP_011520683.1:p.Ala1537= | |
| XM_017022944.1:c.5358C>T | XP_016878433.1:p.Ala1786= | |
| NM_004380.3:c.5364C>T MANE Select | NP_004371.2:p.Ala1788= |