Linked Data
ClinVar Variation Id:
448266
ClinVar RCV Id:
RCV000517575
dbSNP Id:
rs121908546
gnomAD v2:
17-62029226-G-C
gnomAD v4:
17-63951866-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63951866G>C , CM000679.2:g.63951866G>C | GRCh38 |
| NC_000017.10:g.62029226G>C , CM000679.1:g.62029226G>C | GRCh37 |
| NC_000017.9:g.59382958G>C | NCBI36 |
| NG_011699.1:g.26053C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.2411C>G MANE Select | ENSP00000396320.1:p.Ser804Cys | |
| ENST00000578147.5:c.2411C>G | ENSP00000463963.1:p.Ser804Cys | |
| NM_000334.4:c.2411C>G MANE Select | NP_000325.4:p.Ser804Cys | |
| XM_005257566.3:c.2411C>G | XP_005257623.1:p.Ser804Cys |