Linked Data
ClinVar Variation Id:
385508
dbSNP Id:
rs149053552
ExAC:
9:140058089 C / G
gnomAD v2:
9-140058089-C-G
gnomAD v3:
9-137163637-C-G
gnomAD v4:
9-137163637-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137163637C>G , CM000671.2:g.137163637C>G | GRCh38 |
| NC_000009.11:g.140058089C>G , CM000671.1:g.140058089C>G | GRCh37 |
| NC_000009.10:g.139177910C>G | NCBI36 |
| NG_011507.1:g.29481C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371553.8:c.2475C>G | ENSP00000360608.3:p.Ala825= | |
| ENST00000371560.5:c.2475C>G | ENSP00000360615.3:p.Ala825= | |
| ENST00000371561.8:c.2412C>G MANE Select | ENSP00000360616.3:p.Ala804= | |
| ENST00000675295.1:n.1842C>G | ||
| ENST00000350902.9:c.*1387C>G | ENSP00000316915.9:n.*1387C>G | |
| ENST00000371546.8:c.2475C>G | ENSP00000360601.4:p.Ala825= | |
| ENST00000371550.8:c.2412C>G | ENSP00000360605.4:p.Ala804= | |
| ENST00000371553.7:c.2475C>G | ENSP00000360608.3:p.Ala825= | |
| ENST00000371555.8:c.2475C>G | ENSP00000360610.4:p.Ala825= | |
| ENST00000371559.8:c.2412C>G | ENSP00000360614.4:p.Ala804= | |
| ENST00000371560.4:c.2475C>G | ENSP00000360615.3:p.Ala825= | |
| ENST00000371561.7:c.2412C>G | ENSP00000360616.3:p.Ala804= | |
| ENST00000460273.1:n.433C>G | ||
| ENST00000471122.5:n.2489C>G | ||
| NM_000832.6:c.2412C>G | NP_000823.4:p.Ala804= | |
| NM_001185090.1:c.2475C>G | NP_001172019.1:p.Ala825= | |
| NM_001185091.1:c.2475C>G | NP_001172020.1:p.Ala825= | |
| NM_007327.3:c.2412C>G | NP_015566.1:p.Ala804= | |
| NM_021569.3:c.2412C>G | NP_067544.1:p.Ala804= | |
| XM_005266071.2:c.2412C>G | XP_005266128.1:p.Ala804= | |
| XM_005266072.2:c.2475C>G | XP_005266129.1:p.Ala825= | |
| XM_005266073.3:c.2475C>G | XP_005266130.1:p.Ala825= | |
| XM_011518583.1:c.2475C>G | XP_011516885.1:p.Ala825= | |
| XM_005266071.3:c.2412C>G | XP_005266128.1:p.Ala804= | |
| XM_005266072.3:c.2475C>G | XP_005266129.1:p.Ala825= | |
| XM_005266073.4:c.2475C>G | XP_005266130.1:p.Ala825= | |
| XM_011518583.2:c.2475C>G | XP_011516885.1:p.Ala825= | |
| NM_007327.4:c.2412C>G MANE Select | NP_015566.1:p.Ala804= | |
| NM_000832.7:c.2412C>G | NP_000823.4:p.Ala804= | |
| NM_001185090.2:c.2475C>G | NP_001172019.1:p.Ala825= | |
| NM_001185091.2:c.2475C>G | NP_001172020.1:p.Ala825= | |
| NM_021569.4:c.2412C>G | NP_067544.1:p.Ala804= |