Linked Data
ClinVar Variation Id:
9252
dbSNP Id:
rs104894718
ExAC:
19:35524558 C / G
gnomAD v2:
19-35524558-C-G
gnomAD v3:
19-35033654-C-G
gnomAD v4:
19-35033654-C-G
PubMed:
PMID:9697698
PMID:11254444
PMID:11263970
PMID:11866477
PMID:12011299
PMID:15710580
PMID:15857929
PMID:16205844
PMID:17020904
PMID:17928445
PMID:18941776
PMID:20437590
PMID:20628201
PMID:21994374
PMID:22292491
PMID:22425777
PMID:23527921
PMID:23584539
PMID:23891399
PMID:24065921
PMID:24605816
PMID:24747835
PMID:25827112
PMID:27216889
PMID:27277800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033654C>G , CM000681.2:g.35033654C>G | GRCh38 |
| NC_000019.9:g.35524558C>G , CM000681.1:g.35524558C>G | GRCh37 |
| NC_000019.8:g.40216398C>G | NCBI36 |
| NG_013359.1:g.7967C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415950.5:c.363C>G | ENSP00000396915.2:p.Cys121Trp | |
| ENST00000262631.11:c.363C>G MANE Select | ENSP00000262631.3:p.Cys121Trp | |
| ENST00000415950.4:c.363C>G | ENSP00000396915.2:p.Cys121Trp | |
| ENST00000596348.2:c.264C>G | ENSP00000492247.1:p.Cys88Trp | |
| ENST00000638536.1:c.363C>G | ENSP00000492022.1:p.Cys121Trp | |
| ENST00000640135.1:c.264C>G | ENSP00000492655.1:p.Cys88Trp | |
| ENST00000675741.1:c.264C>G | ENSP00000502395.1:p.Cys88Trp | |
| ENST00000676410.1:c.264C>G | ENSP00000502717.1:p.Cys88Trp | |
| ENST00000262631.9:c.363C>G | ENSP00000262631.3:p.Cys121Trp | |
| ENST00000415950.3:c.363C>G | ENSP00000396915.2:p.Cys121Trp | |
| ENST00000595652.5:c.208-58C>G | ENSP00000468848.1:n.208-58C>G | |
| ENST00000596348.1:n.372C>G | ||
| NM_001037.4:c.363C>G | NP_001028.1:p.Cys121Trp | |
| NM_199037.3:c.363C>G | NP_950238.1:p.Cys121Trp | |
| XM_005259144.1:c.264C>G | XP_005259201.1:p.Cys88Trp | |
| NM_001321605.1:c.264C>G | NP_001308534.1:p.Cys88Trp | |
| NM_199037.4:c.363C>G | NP_950238.1:p.Cys121Trp | |
| NM_001037.5:c.363C>G MANE Select | NP_001028.1:p.Cys121Trp | |
| NM_001321605.2:c.264C>G | NP_001308534.1:p.Cys88Trp | |
| NM_199037.5:c.363C>G | NP_950238.1:p.Cys121Trp |