Linked Data
ClinVar Variation Id:
530699
ClinVar RCV Id:
RCV000636680
dbSNP Id:
rs150743224
ExAC:
11:45832694 G / T
gnomAD v2:
11-45832694-G-T
gnomAD v3:
11-45811143-G-T
gnomAD v4:
11-45811143-G-T
COSMIC:
COSM688093
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45811143G>T , CM000673.2:g.45811143G>T | GRCh38 |
| NC_000011.9:g.45832694G>T , CM000673.1:g.45832694G>T | GRCh37 |
| NC_000011.8:g.45789270G>T | NCBI36 |
| NG_009875.1:g.12072G>T , LRG_107:g.12072G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.864G>T | ENSP00000432145.2:p.Thr288= | |
| ENST00000314134.4:c.903G>T MANE Select | ENSP00000313318.3:p.Thr301= | |
| ENST00000314134.3:c.903G>T | ENSP00000313318.3:p.Thr301= | |
| ENST00000442528.2:c.864G>T | ENSP00000412408.2:p.Thr288= | |
| NM_001145265.1:c.864G>T | NP_001138737.1:p.Thr288= | |
| NM_001145266.1:c.864G>T | NP_001138738.1:p.Thr288= | |
| NM_018389.4:c.903G>T , LRG_107t1:c.903G>T | NP_060859.4:p.Thr301= | |
| XM_011520202.1:c.396G>T | XP_011518504.1:p.Thr132= | |
| XM_011520202.2:c.396G>T | XP_011518504.1:p.Thr132= | |
| NM_001145265.2:c.864G>T | NP_001138737.1:p.Thr288= | |
| NM_018389.5:c.903G>T MANE Select | NP_060859.4:p.Thr301= |