Linked Data
ClinVar Variation Id:
245975
ClinVar RCV Id:
RCV000235423
dbSNP Id:
rs879254028
gnomAD v2:
1-161276239-C-A
gnomAD v4:
1-161306449-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306449C>A , CM000663.2:g.161306449C>A | GRCh38 |
| NC_000001.10:g.161276239C>A , CM000663.1:g.161276239C>A | GRCh37 |
| NC_000001.9:g.159542863C>A | NCBI36 |
| NG_008055.1:g.8524G>T , LRG_256:g.8524G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.383G>T | ENSP00000488104.2:p.Gly128Val | |
| ENST00000533357.5:c.464G>T MANE Select | ENSP00000432943.1:p.Gly155Val | |
| ENST00000672287.2:c.-125G>T | ENSP00000499818.2:n.-125G>T | |
| ENST00000672602.2:c.464G>T | ENSP00000500814.2:p.Gly155Val | |
| ENST00000674861.1:n.527G>T | ||
| ENST00000463290.5:c.464G>T | ENSP00000431538.1:p.Gly155Val | |
| ENST00000491222.5:c.-125G>T | ENSP00000431441.1:n.-125G>T | |
| ENST00000526189.2:c.127G>T | ||
| ENST00000533357.4:c.464G>T | ENSP00000432943.1:p.Gly155Val | |
| NM_000530.6:c.464G>T , LRG_256t1:c.464G>T | NP_000521.2:p.Gly155Val | |
| NM_000530.7:c.464G>T | NP_000521.2:p.Gly155Val | |
| NM_001315491.1:c.464G>T | NP_001302420.1:p.Gly155Val | |
| XM_017001321.2:c.494G>T | XP_016856810.1:p.Gly165Val | |
| NM_000530.8:c.464G>T MANE Select | NP_000521.2:p.Gly155Val | |
| NM_001315491.2:c.464G>T | NP_001302420.1:p.Gly155Val |