Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94015769G>A , CM000663.2:g.94015769G>A | GRCh38 |
| NC_000001.10:g.94481325G>A , CM000663.1:g.94481325G>A | GRCh37 |
| NC_000001.9:g.94253913G>A | NCBI36 |
| NG_009073.1:g.110381C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5282C>T MANE Select | NP_000341.2:p.Pro1761Leu |
| ENST00000370225.4:c.5282C>T MANE Select | ENSP00000359245.3:p.Pro1761Leu |
| NM_000350.2:c.5282C>T | NP_000341.2:p.Pro1761Leu |
| ENST00000370225.3:c.5282C>T | ENSP00000359245.3:p.Pro1761Leu |
| ENST00000536513.5:c.1658C>T | ENSP00000439707.2:p.Pro553Leu |