Linked Data
ClinVar Variation Id:
329866
dbSNP Id:
rs147854826
ExAC:
19:49703585 C / T
gnomAD v2:
19-49703585-C-T
gnomAD v3:
19-49200328-C-T
gnomAD v4:
19-49200328-C-T
COSMIC:
COSM999245
PubMed:
PMID:26820365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49200328C>T , CM000681.2:g.49200328C>T | GRCh38 |
| NC_000019.9:g.49703585C>T , CM000681.1:g.49703585C>T | GRCh37 |
| NC_000019.8:g.54395397C>T | NCBI36 |
| NG_027551.1:g.47570C>T | |
| NG_027551.2:g.47570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.2674C>T MANE Select | ENSP00000252826.4:p.Arg892Cys | |
| ENST00000252826.9:c.2674C>T | ENSP00000252826.4:p.Arg892Cys | |
| ENST00000427978.6:c.2239C>T | ENSP00000407492.1:p.Arg747Cys | |
| ENST00000595071.5:n.1638C>T | ||
| ENST00000595519.5:c.*2084C>T | ENSP00000469893.1:n.*2084C>T | |
| ENST00000596338.5:n.2771C>T | ||
| ENST00000598502.5:c.*1787C>T | ENSP00000470229.1:n.*1787C>T | |
| ENST00000598697.5:c.*1629C>T | ENSP00000468989.1:n.*1629C>T | |
| NM_001195227.1:c.2239C>T | NP_001182156.1:p.Arg747Cys | |
| NM_017636.3:c.2674C>T | NP_060106.2:p.Arg892Cys | |
| XM_005259017.1:c.1387C>T | XP_005259074.1:p.Arg463Cys | |
| XM_005259018.2:c.1066C>T | XP_005259075.1:p.Arg356Cys | |
| XM_011527046.1:c.2152C>T | XP_011525348.1:p.Arg718Cys | |
| NM_001321281.1:c.2329C>T | NP_001308210.1:p.Arg777Cys | |
| NM_001321282.1:c.1066C>T | NP_001308211.1:p.Arg356Cys | |
| NM_001321283.1:c.2152C>T | NP_001308212.1:p.Arg718Cys | |
| NM_001321285.1:c.1612C>T | NP_001308214.1:p.Arg538Cys | |
| XM_024451557.1:c.700C>T | XP_024307325.1:p.Arg234Cys | |
| NM_017636.4:c.2674C>T MANE Select | NP_060106.2:p.Arg892Cys | |
| NM_001195227.2:c.2239C>T | NP_001182156.1:p.Arg747Cys | |
| NM_001321281.2:c.2329C>T | NP_001308210.1:p.Arg777Cys | |
| NM_001321282.2:c.1066C>T | NP_001308211.1:p.Arg356Cys | |
| NM_001321283.2:c.2152C>T | NP_001308212.1:p.Arg718Cys | |
| NM_001321285.2:c.1612C>T | NP_001308214.1:p.Arg538Cys |