Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33095268G>C , CM000669.2:g.33095268G>C | GRCh38 |
| NC_000007.13:g.33134880G>C , CM000669.1:g.33134880G>C | GRCh37 |
| NC_000007.12:g.33101405G>C | NCBI36 |
| NG_012968.1:g.19123C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203288.2:c.632C>G MANE Select | NP_976033.1:p.Ser211Cys |
| ENST00000297157.8:c.632C>G MANE Select | ENSP00000297157.3:p.Ser211Cys |
| NM_203288.1:c.632C>G | NP_976033.1:p.Ser211Cys |
| ENST00000297157.7:c.632C>G | ENSP00000297157.3:p.Ser211Cys |
| ENST00000474370.2:n.2605C>G | |
| ENST00000492391.2:n.1756C>G | |
| ENST00000682645.1:n.3703C>G | |
| ENST00000683432.1:c.*807C>G | ENSP00000508174.1:n.*807C>G |
| XM_011515468.1:c.530C>G | XP_011513770.1:p.Ser177Cys |
| XM_011515468.3:c.530C>G | XP_011513770.1:p.Ser177Cys |