Linked Data
ClinVar Variation Id:
1727472
ClinVar RCV Id:
RCV002325812
dbSNP Id:
rs753759590
ExAC:
3:38766802 C / T
gnomAD v2:
3-38766802-C-T
gnomAD v3:
3-38725311-C-T
gnomAD v4:
3-38725311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725311C>T , CM000665.2:g.38725311C>T | GRCh38 |
| NC_000003.11:g.38766802C>T , CM000665.1:g.38766802C>T | GRCh37 |
| NC_000003.10:g.38741806C>T | NCBI36 |
| NG_031891.2:g.73700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3091G>A MANE Select | ENSP00000390600.2:p.Glu1031Lys | |
| ENST00000643924.1:c.3088G>A | ENSP00000495595.1:p.Glu1030Lys | |
| ENST00000655275.1:c.3115G>A | ENSP00000499510.1:p.Glu1039Lys | |
| ENST00000449082.2:c.3091G>A | ENSP00000390600.2:p.Glu1031Lys | |
| NM_001293306.2:c.3088G>A | NP_001280235.2:p.Glu1030Lys | |
| NM_001293307.2:c.2797G>A | NP_001280236.2:p.Glu933Lys | |
| NM_006514.3:c.3091G>A | NP_006505.3:p.Glu1031Lys | |
| XM_005265371.2:c.3100G>A | XP_005265428.1:p.Glu1034Lys | |
| XM_011533993.1:c.3097G>A | XP_011532295.1:p.Glu1033Lys | |
| XM_011533994.1:c.2806G>A | XP_011532296.1:p.Glu936Lys | |
| XM_005265371.3:c.3100G>A | XP_005265428.1:p.Glu1034Lys | |
| XM_011533993.2:c.3097G>A | XP_011532295.1:p.Glu1033Lys | |
| XM_011533994.2:c.2806G>A | XP_011532296.1:p.Glu936Lys | |
| NM_006514.4:c.3091G>A MANE Select | NP_006505.4:p.Glu1031Lys |