Linked Data
ClinVar Variation Id:
3224712
ClinVar RCV Id:
RCV004521402
dbSNP Id:
rs770275411
gnomAD v2:
15-73624490-C-T
gnomAD v4:
15-73332149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73332149C>T , CM000677.2:g.73332149C>T | GRCh38 |
| NC_000015.9:g.73624490C>T , CM000677.1:g.73624490C>T | GRCh37 |
| NC_000015.8:g.71411543C>T | NCBI36 |
| NG_009063.1:g.42116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1353G>A MANE Select | ENSP00000261917.3:p.Val451= | |
| ENST00000261917.3:c.1353G>A | ENSP00000261917.3:p.Val451= | |
| NM_005477.2:c.1353G>A | NP_005468.1:p.Val451= | |
| XM_011521148.1:c.135G>A | XP_011519450.1:p.Val45= | |
| XM_011521148.2:c.135G>A | XP_011519450.1:p.Val45= | |
| NM_005477.3:c.1353G>A MANE Select | NP_005468.1:p.Val451= |