Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119179452C>G , CM000674.2:g.119179452C>G | GRCh38 |
| NC_000012.11:g.119617257C>G , CM000674.1:g.119617257C>G | GRCh37 |
| NC_000012.10:g.118101640C>G | NCBI36 |
| NG_007953.2:g.5663C>G , LRG_249:g.5663C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281938.7:c.140C>G MANE Select | ENSP00000281938.3:p.Ser47Cys | |
| ENST00000674542.1:c.140C>G | ENSP00000502352.1:p.Ser47Cys | |
| ENST00000676244.1:n.73+5454C>G | ||
| ENST00000281938.6:c.140C>G | ENSP00000281938.2:p.Ser47Cys | |
| NM_014365.2:c.140C>G , LRG_249t1:c.140C>G | NP_055180.1:p.Ser47Cys | |
| NM_014365.3:c.140C>G MANE Select | NP_055180.1:p.Ser47Cys |