Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59843998G>C , CM000673.2:g.59843998G>C | GRCh38 |
| NC_000011.9:g.59611471G>C , CM000673.1:g.59611471G>C | GRCh37 |
| NC_000011.8:g.59368047G>C | NCBI36 |
| NG_008120.1:g.6504C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.137C>G MANE Select | NP_005133.2:p.Ser46Trp |
| ENST00000257248.3:c.137C>G MANE Select | ENSP00000257248.2:p.Ser46Trp |
| NM_005142.2:c.137C>G | NP_005133.2:p.Ser46Trp |
| ENST00000257248.2:c.137C>G | ENSP00000257248.2:p.Ser46Trp |
| ENST00000525058.5:c.*104C>G | ENSP00000433196.1:n.*104C>G |
| ENST00000532070.1:n.183C>G | |
| XM_011544939.1:c.137C>G | XP_011543241.1:p.Ser46Trp |
| XM_011544939.3:c.137C>G | XP_011543241.1:p.Ser46Trp |