Linked Data
ClinVar Variation Id:
1062762
dbSNP Id:
rs1458693100
gnomAD v2:
3-38766679-G-A
gnomAD v3:
3-38725188-G-A
gnomAD v4:
3-38725188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725188G>A , CM000665.2:g.38725188G>A | GRCh38 |
| NC_000003.11:g.38766679G>A , CM000665.1:g.38766679G>A | GRCh37 |
| NC_000003.10:g.38741683G>A | NCBI36 |
| NG_031891.2:g.73823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3214C>T MANE Select | ENSP00000390600.2:p.Gln1072Ter | |
| ENST00000643924.1:c.3211C>T | ENSP00000495595.1:p.Gln1071Ter | |
| ENST00000655275.1:c.3238C>T | ENSP00000499510.1:p.Gln1080Ter | |
| ENST00000449082.2:c.3214C>T | ENSP00000390600.2:p.Gln1072Ter | |
| NM_001293306.2:c.3211C>T | NP_001280235.2:p.Gln1071Ter | |
| NM_001293307.2:c.2920C>T | NP_001280236.2:p.Gln974Ter | |
| NM_006514.3:c.3214C>T | NP_006505.3:p.Gln1072Ter | |
| XM_005265371.2:c.3223C>T | XP_005265428.1:p.Gln1075Ter | |
| XM_011533993.1:c.3220C>T | XP_011532295.1:p.Gln1074Ter | |
| XM_011533994.1:c.2929C>T | XP_011532296.1:p.Gln977Ter | |
| XM_005265371.3:c.3223C>T | XP_005265428.1:p.Gln1075Ter | |
| XM_011533993.2:c.3220C>T | XP_011532295.1:p.Gln1074Ter | |
| XM_011533994.2:c.2929C>T | XP_011532296.1:p.Gln977Ter | |
| NM_006514.4:c.3214C>T MANE Select | NP_006505.4:p.Gln1072Ter |