Linked Data
ClinVar Variation Id:
8871
dbSNP Id:
rs121917857
gnomAD v4:
2-219057441-A-G
PubMed:
PMID:12632327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219057441A>G , CM000664.2:g.219057441A>G | GRCh38 |
| NC_000002.11:g.219922163A>G , CM000664.1:g.219922163A>G | GRCh37 |
| NC_000002.10:g.219630407A>G | NCBI36 |
| NG_016741.1:g.8076T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295731.7:c.569T>C MANE Select | ENSP00000295731.5:p.Val190Ala | |
| ENST00000295731.6:c.569T>C | ENSP00000295731.5:p.Val190Ala | |
| NM_002181.3:c.569T>C | NP_002172.2:p.Val190Ala | |
| NM_002181.4:c.569T>C MANE Select | NP_002172.2:p.Val190Ala |