Linked Data
dbSNP Id:
rs750882416
ExAC:
4:68606235 C / G
gnomAD v2:
4-68606235-C-G
gnomAD v4:
4-67740517-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740517C>G , CM000666.2:g.67740517C>G | GRCh38 |
| NC_000004.11:g.68606235C>G , CM000666.1:g.68606235C>G | GRCh37 |
| NC_000004.10:g.68288830C>G | NCBI36 |
| NG_009293.1:g.20570G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.950G>C MANE Select | ENSP00000226413.5:p.Cys317Ser | |
| ENST00000226413.4:c.950G>C | ENSP00000226413.4:p.Cys317Ser | |
| ENST00000420975.2:c.822G>C | ENSP00000397561.2:n.822G>C | |
| NM_000406.2:c.950G>C | NP_000397.1:p.Cys317Ser | |
| NM_001012763.1:c.*72G>C | NP_001012781.1:n.*72G>C | |
| NM_000406.3:c.950G>C MANE Select | NP_000397.1:p.Cys317Ser | |
| NM_001012763.2:c.*72G>C | NP_001012781.1:n.*72G>C |