Linked Data
ClinVar Variation Id:
1646316
ClinVar RCV Id:
RCV002136430
dbSNP Id:
rs1451772901
gnomAD v2:
6-121768143-T-A
gnomAD v3:
6-121446997-T-A
gnomAD v4:
6-121446997-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121446997T>A , CM000668.2:g.121446997T>A | GRCh38 |
| NC_000006.11:g.121768143T>A , CM000668.1:g.121768143T>A | GRCh37 |
| NC_000006.10:g.121809842T>A | NCBI36 |
| NG_008308.1:g.16399T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.150T>A MANE Select | ENSP00000282561.3:p.Ser50= | |
| ENST00000647564.1:c.150T>A | ENSP00000497565.1:p.Ser50= | |
| ENST00000649003.1:c.150T>A | ENSP00000497283.1:p.Ser50= | |
| ENST00000650427.1:c.150T>A | ENSP00000497367.1:p.Ser50= | |
| ENST00000282561.3:c.150T>A | ENSP00000282561.3:p.Ser50= | |
| NM_000165.4:c.150T>A | NP_000156.1:p.Ser50= | |
| NM_000165.5:c.150T>A MANE Select | NP_000156.1:p.Ser50= |