Linked Data
ClinVar Variation Id:
99982
ClinVar RCV Id:
RCV000086432
dbSNP Id:
rs151344604
gnomAD v4:
7-151186461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186461G>A , CM000669.2:g.151186461G>A | GRCh38 |
| NC_000007.13:g.150883548G>A , CM000669.1:g.150883548G>A | GRCh37 |
| NC_000007.12:g.150514481G>A | NCBI36 |
| NG_017016.1:g.6372C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420175.3:c.515C>T MANE Select | ENSP00000391137.2:p.Ala172Val | |
| ENST00000275838.5:c.515C>T | ENSP00000275838.1:p.Ala172Val | |
| ENST00000377867.7:c.470C>T | ENSP00000367098.3:p.Ala157Val | |
| ENST00000420175.2:c.515C>T | ENSP00000391137.2:p.Ala172Val | |
| NM_001142459.1:c.515C>T | NP_001135931.2:p.Ala172Val | |
| NM_001142460.1:c.515C>T | NP_001135932.2:p.Ala172Val | |
| NM_080871.3:c.470C>T | NP_543147.2:p.Ala157Val | |
| XM_005249949.3:c.650C>T | XP_005250006.1:p.Ala217Val | |
| NM_001142459.2:c.515C>T MANE Select | NP_001135931.2:p.Ala172Val | |
| NM_080871.4:c.470C>T | NP_543147.2:p.Ala157Val |