Linked Data
ClinVar Variation Id:
4313
ClinVar RCV Id:
RCV000004556
dbSNP Id:
rs121908302
gnomAD v4:
1-155240033-C-A
PubMed:
PMID:8829654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155240033C>A , CM000663.2:g.155240033C>A | GRCh38 |
| NC_000001.10:g.155209824C>A , CM000663.1:g.155209824C>A | GRCh37 |
| NC_000001.9:g.153476448C>A | NCBI36 |
| NG_009783.1:g.9665G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368373.8:c.160G>T MANE Select | ENSP00000357357.3:p.Val54Leu | |
| ENST00000327247.9:c.160G>T | ENSP00000314508.5:p.Val54Leu | |
| ENST00000368373.7:c.160G>T | ENSP00000357357.3:p.Val54Leu | |
| ENST00000427500.7:c.160G>T | ENSP00000402577.2:p.Val54Leu | |
| ENST00000428024.3:c.-102G>T | ENSP00000397986.2:n.-102G>T | |
| ENST00000467918.5:n.421-71G>T | ||
| ENST00000470104.1:n.414G>T | ||
| ENST00000473570.5:n.481G>T | ||
| ENST00000484489.5:n.279G>T | ||
| ENST00000493842.5:n.498G>T | ||
| NM_000157.3:c.160G>T | NP_000148.2:p.Val54Leu | |
| NM_001005741.2:c.160G>T | NP_001005741.1:p.Val54Leu | |
| NM_001005742.2:c.160G>T | NP_001005742.1:p.Val54Leu | |
| NM_001171811.1:c.-102G>T | NP_001165282.1:n.-102G>T | |
| NM_001171812.1:c.160G>T | NP_001165283.1:p.Val54Leu | |
| XM_006711270.1:c.160G>T | XP_006711333.1:p.Val54Leu | |
| XM_011509407.1:c.160G>T | XP_011507709.1:p.Val54Leu | |
| NM_000157.4:c.160G>T MANE Select | NP_000148.2:p.Val54Leu | |
| NM_001005741.3:c.160G>T | NP_001005741.1:p.Val54Leu | |
| NM_001005742.3:c.160G>T | NP_001005742.1:p.Val54Leu | |
| NM_001171811.2:c.-102G>T | NP_001165282.1:n.-102G>T | |
| NM_001171812.2:c.160G>T | NP_001165283.1:p.Val54Leu |