Linked Data
ClinVar Variation Id:
16674
ClinVar RCV Id:
RCV000018154
dbSNP Id:
rs121918401
PubMed:
PMID:10982033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127819934C>A , CM000671.2:g.127819934C>A | GRCh38 |
| NC_000009.11:g.130582213C>A , CM000671.1:g.130582213C>A | GRCh37 |
| NC_000009.10:g.129622034C>A | NCBI36 |
| NG_009551.1:g.39835G>T , LRG_589:g.39835G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.692G>T | ENSP00000479015.1:p.Gly231Val | |
| ENST00000373203.9:c.1238G>T MANE Select | ENSP00000362299.4:p.Gly413Val | |
| ENST00000344849.4:c.1238G>T | ENSP00000341917.3:p.Gly413Val | |
| ENST00000373203.8:c.1238G>T | ENSP00000362299.4:p.Gly413Val | |
| ENST00000480266.5:c.692G>T | ENSP00000479015.1:p.Gly231Val | |
| ENST00000486329.1:n.206G>T | ||
| NM_000118.3:c.1238G>T , LRG_589t1:c.1238G>T | NP_000109.1:p.Gly413Val | |
| NM_001114753.2:c.1238G>T , LRG_589t2:c.1238G>T | NP_001108225.1:p.Gly413Val | |
| NM_001278138.1:c.692G>T | NP_001265067.1:p.Gly231Val | |
| NR_136302.1:n.1568+1223C>A | ||
| NM_001114753.3:c.1238G>T MANE Select | NP_001108225.1:p.Gly413Val | |
| NM_001278138.2:c.692G>T | NP_001265067.1:p.Gly231Val |