Linked Data
ClinVar Variation Id:
1717
dbSNP Id:
rs121434325
gnomAD v2:
5-60200621-G-A
gnomAD v3:
5-60904794-G-A
gnomAD v4:
5-60904794-G-A
PubMed:
PMID:15744458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60904794G>A , CM000667.2:g.60904794G>A | GRCh38 |
| NC_000005.9:g.60200621G>A , CM000667.1:g.60200621G>A | GRCh37 |
| NC_000005.8:g.60236378G>A | NCBI36 |
| NG_009289.1:g.45285C>T , LRG_466:g.45285C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439176.6:c.479C>T | ENSP00000408344.2:p.Ala160Val | |
| ENST00000647431.2:c.580C>T | ENSP00000494726.2:n.580C>T | |
| ENST00000647486.2:c.479C>T | ENSP00000494466.2:p.Ala160Val | |
| ENST00000675042.2:c.305C>T | ENSP00000502082.2:p.Ala102Val | |
| ENST00000675452.2:c.*444C>T | ENSP00000506954.1:n.*444C>T | |
| ENST00000682217.1:c.479C>T | ENSP00000507570.1:p.Ala160Val | |
| ENST00000682246.1:n.535C>T | ||
| ENST00000682375.1:c.*309C>T | ENSP00000507551.1:n.*309C>T | |
| ENST00000683052.1:c.281C>T | ENSP00000507072.1:p.Ala94Val | |
| ENST00000683199.1:n.501C>T | ||
| ENST00000683216.1:n.744C>T | ||
| ENST00000683460.1:c.*309C>T | ENSP00000507820.1:n.*309C>T | |
| ENST00000684394.1:n.534C>T | ||
| ENST00000684453.1:n.529C>T | ||
| ENST00000684621.1:n.535C>T | ||
| ENST00000265038.10:c.479C>T | ENSP00000265038.6:p.Ala160Val | |
| ENST00000497892.6:c.*277C>T | ENSP00000501805.1:n.*277C>T | |
| ENST00000643034.1:c.*371C>T | ENSP00000496080.1:n.*371C>T | |
| ENST00000643708.1:c.*309C>T | ENSP00000494199.1:n.*309C>T | |
| ENST00000647431.1:c.531C>T | ||
| ENST00000647486.1:c.430C>T | ||
| ENST00000675042.1:c.305C>T | ENSP00000502082.1:p.Ala102Val | |
| ENST00000675229.1:c.479C>T | ENSP00000502154.1:p.Ala160Val | |
| ENST00000675378.1:c.479C>T | ENSP00000502535.1:p.Ala160Val | |
| ENST00000675452.1:n.728C>T | ||
| ENST00000675920.1:n.1087C>T | ||
| ENST00000676185.1:c.479C>T MANE Select | ENSP00000501614.1:p.Ala160Val | |
| ENST00000265038.9:c.479C>T | ENSP00000265038.5:p.Ala160Val | |
| ENST00000381118.7:c.*523C>T | ENSP00000370510.3:n.*523C>T | |
| ENST00000439176.5:c.305C>T | ENSP00000408344.1:p.Ala102Val | |
| ENST00000462279.5:n.324C>T | ||
| ENST00000484330.5:n.227-2286C>T | ||
| ENST00000495985.5:n.252C>T | ||
| ENST00000497892.5:n.522C>T | ||
| NM_000082.3:c.479C>T , LRG_466t1:c.479C>T | NP_000073.1:p.Ala160Val | |
| NM_001007233.2:c.305C>T | NP_001007234.1:p.Ala102Val | |
| NM_001007234.2:c.479C>T | NP_001007235.1:p.Ala160Val | |
| NM_001290285.1:c.23-1078C>T | NP_001277214.1:n.23-1078C>T | |
| NM_001007234.3:c.479C>T | NP_001007235.1:p.Ala160Val | |
| NM_000082.4:c.479C>T MANE Select | NP_000073.1:p.Ala160Val | |
| NM_001007233.3:c.305C>T | NP_001007234.1:p.Ala102Val | |
| NM_001290285.2:c.23-1078C>T | NP_001277214.1:n.23-1078C>T |