Linked Data
ClinVar Variation Id:
8993
dbSNP Id:
rs137852690
ExAC:
8:38002831 G / A
gnomAD v2:
8-38002831-G-A
gnomAD v3:
8-38145313-G-A
gnomAD v4:
8-38145313-G-A
PubMed:
PMID:10566637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145313G>A , CM000670.2:g.38145313G>A | GRCh38 |
| NC_000008.10:g.38002831G>A , CM000670.1:g.38002831G>A | GRCh37 |
| NC_000008.9:g.38121988G>A | NCBI36 |
| NG_011827.1:g.10770C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.653C>T MANE Select | ENSP00000276449.3:p.Ala218Val | |
| ENST00000276449.8:c.653C>T | ENSP00000276449.3:p.Ala218Val | |
| ENST00000520114.1:n.1787C>T | ||
| ENST00000522050.1:c.586+650C>T | ||
| NM_000349.2:c.653C>T | NP_000340.2:p.Ala218Val | |
| XM_006716392.1:c.650+650C>T | XP_006716455.1:n.650+650C>T | |
| NM_000349.3:c.653C>T MANE Select | NP_000340.2:p.Ala218Val |