Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871444C>G , CM000667.2:g.14871444C>G | GRCh38 |
| NC_000005.9:g.14871553C>G , CM000667.1:g.14871553C>G | GRCh37 |
| NC_000005.8:g.14924553C>G | NCBI36 |
| NG_008273.1:g.5335G>C | |
| NG_008273.2:g.5342G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.4G>C MANE Select | NP_473368.1:p.Val2Leu |
| ENST00000284268.8:c.4G>C MANE Select | ENSP00000284268.6:p.Val2Leu |
| NM_054027.4:c.4G>C | NP_473368.1:p.Val2Leu |
| NM_054027.5:c.4G>C | NP_473368.1:p.Val2Leu |
| ENST00000284268.6:c.4G>C | ENSP00000284268.6:p.Val2Leu |
| ENST00000505140.1:c.4G>C | ENSP00000426332.1:p.Val2Leu |
| ENST00000513115.1:n.29G>C | |
| XM_011514067.1:c.4G>C | XP_011512369.1:p.Val2Leu |