Linked Data
ClinVar Variation Id:
56465
ClinVar RCV Id:
RCV000049878
dbSNP Id:
rs386833905
gnomAD v2:
19-36335046-G-C
gnomAD v4:
19-35844144-G-C
COSMIC:
COSM5955604
PubMed:
PMID:9915943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844144G>C , CM000681.2:g.35844144G>C | GRCh38 |
| NC_000019.9:g.36335046G>C , CM000681.1:g.36335046G>C | GRCh37 |
| NC_000019.8:g.41026886G>C | NCBI36 |
| NG_013356.2:g.30144C>G , LRG_693:g.30144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2171C>G MANE Select | ENSP00000368190.4:p.Ser724Cys | |
| ENST00000353632.6:c.2171C>G | ENSP00000343634.5:p.Ser724Cys | |
| ENST00000378910.9:c.2171C>G | ENSP00000368190.4:p.Ser724Cys | |
| ENST00000585400.1:n.353C>G | ||
| NM_004646.3:c.2171C>G , LRG_693t1:c.2171C>G | NP_004637.1:p.Ser724Cys | |
| NM_004646.4:c.2171C>G MANE Select | NP_004637.1:p.Ser724Cys |