Linked Data
ClinVar Variation Id:
4798
ClinVar RCV Id:
RCV001731279
dbSNP Id:
rs267607090
gnomAD v4:
14-77555401-C-T
PubMed:
PMID:20920666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77555401C>T , CM000676.2:g.77555401C>T | GRCh38 |
| NC_000014.8:g.78021744C>T , CM000676.1:g.78021744C>T | GRCh37 |
| NC_000014.7:g.77091497C>T | NCBI36 |
| NG_028282.1:g.66367G>A , LRG_371:g.66367G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687688.1:n.838G>A | ||
| ENST00000691887.1:n.852G>A | ||
| ENST00000692906.1:n.807G>A | ||
| ENST00000216484.7:c.1075G>A MANE Select | ENSP00000216484.2:p.Val359Met | |
| ENST00000216484.6:c.1075G>A | ENSP00000216484.2:p.Val359Met | |
| ENST00000554365.1:n.400G>A | ||
| ENST00000554901.1:c.884G>A | ||
| NM_004863.3:c.1075G>A , LRG_371t1:c.1075G>A | NP_004854.1:p.Val359Met | |
| XM_011537384.1:c.1075G>A | XP_011535686.1:p.Val359Met | |
| XM_011537384.2:c.1075G>A | XP_011535686.1:p.Val359Met | |
| NM_004863.4:c.1075G>A MANE Select | NP_004854.1:p.Val359Met |