Linked Data
ClinVar Variation Id:
1730421
ClinVar RCV Id:
RCV002326597
dbSNP Id:
rs373344096
ExAC:
15:73615093 G / A
gnomAD v2:
15-73615093-G-A
gnomAD v4:
15-73322752-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322752G>A , CM000677.2:g.73322752G>A | GRCh38 |
| NC_000015.9:g.73615093G>A , CM000677.1:g.73615093G>A | GRCh37 |
| NC_000015.8:g.71402146G>A | NCBI36 |
| NG_009063.1:g.51513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3341C>T MANE Select | ENSP00000261917.3:p.Ala1114Val | |
| ENST00000261917.3:c.3341C>T | ENSP00000261917.3:p.Ala1114Val | |
| NM_005477.2:c.3341C>T | NP_005468.1:p.Ala1114Val | |
| XM_011521148.1:c.2123C>T | XP_011519450.1:p.Ala708Val | |
| XM_011521148.2:c.2123C>T | XP_011519450.1:p.Ala708Val | |
| NM_005477.3:c.3341C>T MANE Select | NP_005468.1:p.Ala1114Val |