Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94108591G>A , CM000663.2:g.94108591G>A | GRCh38 |
| NC_000001.10:g.94574147G>A , CM000663.1:g.94574147G>A | GRCh37 |
| NC_000001.9:g.94346735G>A | NCBI36 |
| NG_009073.1:g.17559C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.428C>T MANE Select | NP_000341.2:p.Pro143Leu |
| ENST00000370225.4:c.428C>T MANE Select | ENSP00000359245.3:p.Pro143Leu |
| NM_000350.2:c.428C>T | NP_000341.2:p.Pro143Leu |
| ENST00000370225.3:c.428C>T | ENSP00000359245.3:p.Pro143Leu |
| ENST00000649773.1:c.428C>T | ENSP00000496882.1:p.Pro143Leu |