Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101235171G>C , CM000677.2:g.101235171G>C | GRCh38 |
| NC_000015.9:g.101775376G>C , CM000677.1:g.101775376G>C | GRCh37 |
| NC_000015.8:g.99592899G>C | NCBI36 |
| NG_031908.1:g.21762C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014918.5:c.727C>G MANE Select | NP_055733.2:p.Leu243Val |
| ENST00000254190.4:c.727C>G MANE Select | ENSP00000254190.3:p.Leu243Val |
| NM_014918.4:c.727C>G | NP_055733.2:p.Leu243Val |
| ENST00000254190.3:c.727C>G | ENSP00000254190.3:p.Leu243Val |
| XM_011521364.1:c.727C>G | XP_011519666.1:p.Leu243Val |
| XM_011521364.2:c.727C>G | XP_011519666.1:p.Leu243Val |
| XM_011521365.1:c.-1+84C>G | XP_011519667.1:n.-1+84C>G |