Linked Data
ClinVar Variation Id:
1509305
ClinVar RCV Id:
RCV002040640
dbSNP Id:
rs1325267297
gnomAD v2:
3-50230795-G-A
gnomAD v4:
3-50193362-G-A
COSMIC:
COSM145454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193362G>A , CM000665.2:g.50193362G>A | GRCh38 |
| NC_000003.11:g.50230795G>A , CM000665.1:g.50230795G>A | GRCh37 |
| NC_000003.10:g.50205799G>A | NCBI36 |
| NG_009831.1:g.6753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.247G>A MANE Select | ENSP00000232461.3:p.Ala83Thr | |
| ENST00000232461.7:c.247G>A | ENSP00000232461.3:p.Ala83Thr | |
| ENST00000433068.5:c.247G>A | ENSP00000387555.1:p.Ala83Thr | |
| ENST00000440836.1:c.103G>A | ENSP00000403537.1:p.Ala35Thr | |
| NM_000172.3:c.247G>A | NP_000163.2:p.Ala83Thr | |
| NM_144499.2:c.247G>A | NP_653082.1:p.Ala83Thr | |
| XM_011533595.1:c.103G>A | XP_011531897.1:p.Ala35Thr | |
| XM_011533596.1:c.103G>A | XP_011531898.1:p.Ala35Thr | |
| XR_940416.1:n.527G>A | ||
| NM_000172.4:c.247G>A | NP_000163.2:p.Ala83Thr | |
| NM_144499.3:c.247G>A MANE Select | NP_653082.1:p.Ala83Thr |