Linked Data
ClinVar Variation Id:
576536
dbSNP Id:
rs774803610
ExAC:
3:38766702 G / A
gnomAD v2:
3-38766702-G-A
gnomAD v3:
3-38725211-G-A
gnomAD v4:
3-38725211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725211G>A , CM000665.2:g.38725211G>A | GRCh38 |
| NC_000003.11:g.38766702G>A , CM000665.1:g.38766702G>A | GRCh37 |
| NC_000003.10:g.38741706G>A | NCBI36 |
| NG_031891.2:g.73800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3191C>T MANE Select | ENSP00000390600.2:p.Thr1064Met | |
| ENST00000643924.1:c.3188C>T | ENSP00000495595.1:p.Thr1063Met | |
| ENST00000655275.1:c.3215C>T | ENSP00000499510.1:p.Thr1072Met | |
| ENST00000449082.2:c.3191C>T | ENSP00000390600.2:p.Thr1064Met | |
| NM_001293306.2:c.3188C>T | NP_001280235.2:p.Thr1063Met | |
| NM_001293307.2:c.2897C>T | NP_001280236.2:p.Thr966Met | |
| NM_006514.3:c.3191C>T | NP_006505.3:p.Thr1064Met | |
| XM_005265371.2:c.3200C>T | XP_005265428.1:p.Thr1067Met | |
| XM_011533993.1:c.3197C>T | XP_011532295.1:p.Thr1066Met | |
| XM_011533994.1:c.2906C>T | XP_011532296.1:p.Thr969Met | |
| XM_005265371.3:c.3200C>T | XP_005265428.1:p.Thr1067Met | |
| XM_011533993.2:c.3197C>T | XP_011532295.1:p.Thr1066Met | |
| XM_011533994.2:c.2906C>T | XP_011532296.1:p.Thr969Met | |
| NM_006514.4:c.3191C>T MANE Select | NP_006505.4:p.Thr1064Met |