Linked Data
ClinVar Variation Id:
222761
dbSNP Id:
rs114896482
ExAC:
19:36333389 G / A
gnomAD v2:
19-36333389-G-A
gnomAD v3:
19-35842487-G-A
gnomAD v4:
19-35842487-G-A
COSMIC:
COSM1166237
PubMed:
PMID:15086927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842487G>A , CM000681.2:g.35842487G>A | GRCh38 |
| NC_000019.9:g.36333389G>A , CM000681.1:g.36333389G>A | GRCh37 |
| NC_000019.8:g.41025229G>A | NCBI36 |
| NG_013356.2:g.31801C>T , LRG_693:g.31801C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.2398C>T MANE Select | ENSP00000368190.4:p.Arg800Cys | |
| ENST00000353632.6:c.2398C>T | ENSP00000343634.5:p.Arg800Cys | |
| ENST00000378910.9:c.2398C>T | ENSP00000368190.4:p.Arg800Cys | |
| NM_004646.3:c.2398C>T , LRG_693t1:c.2398C>T | NP_004637.1:p.Arg800Cys | |
| NM_004646.4:c.2398C>T MANE Select | NP_004637.1:p.Arg800Cys |