Linked Data
dbSNP Id:
rs2144122786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763413C>G , CM000679.2:g.74763413C>G | GRCh38 |
| NC_000017.10:g.72759552C>G , CM000679.1:g.72759552C>G | GRCh37 |
| NC_000017.9:g.70271147C>G | NCBI36 |
| NG_013022.1:g.19790C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.650C>G MANE Select | ENSP00000262613.5:p.Ser217Cys | |
| ENST00000262613.9:c.650C>G | ENSP00000262613.5:p.Ser217Cys | |
| ENST00000413388.2:c.182C>G | ENSP00000464982.1:p.Ser61Cys | |
| ENST00000578958.1:n.384C>G | ||
| ENST00000583369.5:c.442-4734C>G | ENSP00000464321.1:n.442-4734C>G | |
| NM_004252.4:c.650C>G | NP_004243.1:p.Ser217Cys | |
| XR_002958087.1:n.869C>G | ||
| NM_004252.5:c.650C>G MANE Select | NP_004243.1:p.Ser217Cys |