Linked Data
ClinVar Variation Id:
1073207
ClinVar RCV Id:
RCV001386129
dbSNP Id:
rs2101048569
gnomAD v4:
1-94041311-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041311G>C , CM000663.2:g.94041311G>C | GRCh38 |
| NC_000001.10:g.94506867G>C , CM000663.1:g.94506867G>C | GRCh37 |
| NC_000001.9:g.94279455G>C | NCBI36 |
| NG_009073.1:g.84839C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3420C>G MANE Select | ENSP00000359245.3:p.Cys1140Trp | |
| ENST00000370225.3:c.3420C>G | ENSP00000359245.3:p.Cys1140Trp | |
| ENST00000536513.5:c.-64-1222C>G | ENSP00000439707.2:n.-64-1222C>G | |
| NM_000350.2:c.3420C>G | NP_000341.2:p.Cys1140Trp | |
| NM_000350.3:c.3420C>G MANE Select | NP_000341.2:p.Cys1140Trp |