Linked Data
ClinVar Variation Id:
3130081
ClinVar RCV Id:
RCV004420496
dbSNP Id:
rs151344604
ExAC:
7:150883548 G / C
gnomAD v2:
7-150883548-G-C
gnomAD v3:
7-151186461-G-C
gnomAD v4:
7-151186461-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186461G>C , CM000669.2:g.151186461G>C | GRCh38 |
| NC_000007.13:g.150883548G>C , CM000669.1:g.150883548G>C | GRCh37 |
| NC_000007.12:g.150514481G>C | NCBI36 |
| NG_017016.1:g.6372C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.515C>G MANE Select | ENSP00000391137.2:p.Ala172Gly | |
| ENST00000275838.5:c.515C>G | ENSP00000275838.1:p.Ala172Gly | |
| ENST00000377867.7:c.470C>G | ENSP00000367098.3:p.Ala157Gly | |
| ENST00000420175.2:c.515C>G | ENSP00000391137.2:p.Ala172Gly | |
| NM_001142459.1:c.515C>G | NP_001135931.2:p.Ala172Gly | |
| NM_001142460.1:c.515C>G | NP_001135932.2:p.Ala172Gly | |
| NM_080871.3:c.470C>G | NP_543147.2:p.Ala157Gly | |
| XM_005249949.3:c.650C>G | XP_005250006.1:p.Ala217Gly | |
| NM_001142459.2:c.515C>G MANE Select | NP_001135931.2:p.Ala172Gly | |
| NM_080871.4:c.470C>G | NP_543147.2:p.Ala157Gly |