Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110162421G>A , CM000675.2:g.110162421G>A | GRCh38 |
| NC_000013.10:g.110814768G>A , CM000675.1:g.110814768G>A | GRCh37 |
| NC_000013.9:g.109612769G>A | NCBI36 |
| NG_011544.2:g.149729C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.4271C>T MANE Select | NP_001836.3:p.Pro1424Leu |
| ENST00000375820.10:c.4271C>T MANE Select | ENSP00000364979.4:p.Pro1424Leu |
| NM_001845.5:c.4271C>T | NP_001836.3:p.Pro1424Leu |
| ENST00000375820.8:c.4271C>T | ENSP00000364979.4:p.Pro1424Leu |
| ENST00000467182.1:n.50C>T | |
| ENST00000474391.1:n.118C>T | |
| ENST00000649720.1:n.439C>T | |
| ENST00000650424.1:c.427C>T | |
| XM_011521048.1:c.4079C>T | XP_011519350.1:p.Pro1360Leu |
| XM_011521048.2:c.4079C>T | XP_011519350.1:p.Pro1360Leu |