Linked Data
ClinVar Variation Id:
51
ClinVar RCV Id:
RCV000000068
dbSNP Id:
rs267607179
ExAC:
22:41320486 G / T
gnomAD v2:
22-41320486-G-T
gnomAD v3:
22-40924482-G-T
gnomAD v4:
22-40924482-G-T
PubMed:
PMID:20179356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40924482G>T , CM000684.2:g.40924482G>T | GRCh38 |
| NC_000022.10:g.41320486G>T , CM000684.1:g.41320486G>T | GRCh37 |
| NC_000022.9:g.39650432G>T | NCBI36 |
| NG_028221.1:g.72402G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357137.9:c.1357G>T MANE Select | ENSP00000349658.4:p.Gly453Cys | |
| ENST00000357137.8:c.1357G>T | ENSP00000349658.4:p.Gly453Cys | |
| ENST00000428799.1:c.*1239G>T | ENSP00000394283.1:n.*1239G>T | |
| NM_022098.3:c.1357G>T | NP_071381.1:p.Gly453Cys | |
| NM_022098.4:c.1357G>T MANE Select | NP_071381.1:p.Gly453Cys |