Linked Data
ClinVar Variation Id:
2167837
ClinVar RCV Id:
RCV003100199
dbSNP Id:
rs772280985
ExAC:
22:29876409 C / T
gnomAD v2:
22-29876409-C-T
gnomAD v3:
22-29480420-C-T
gnomAD v4:
22-29480420-C-T
COSMIC:
COSM6209019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480420C>T , CM000684.2:g.29480420C>T | GRCh38 |
| NC_000022.10:g.29876409C>T , CM000684.1:g.29876409C>T | GRCh37 |
| NC_000022.9:g.28206409C>T | NCBI36 |
| NG_008404.1:g.5229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.158C>T MANE Select | ENSP00000311997.6:p.Thr53Met | |
| ENST00000310624.6:c.158C>T | ENSP00000311997.6:p.Thr53Met | |
| NM_021076.3:c.158C>T | NP_066554.2:p.Thr53Met | |
| XM_011530200.1:c.158C>T | XP_011528502.1:p.Thr53Met | |
| XM_011530200.2:c.158C>T | XP_011528502.1:p.Thr53Met | |
| NM_021076.4:c.158C>T MANE Select | NP_066554.2:p.Thr53Met |