Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169756G>A , CM000675.2:g.110169756G>A | GRCh38 |
| NC_000013.10:g.110822103G>A , CM000675.1:g.110822103G>A | GRCh37 |
| NC_000013.9:g.109620104G>A | NCBI36 |
| NG_011544.2:g.142394C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.3749C>T MANE Select | NP_001836.3:p.Pro1250Leu |
| ENST00000375820.10:c.3749C>T MANE Select | ENSP00000364979.4:p.Pro1250Leu |
| NM_001845.5:c.3749C>T | NP_001836.3:p.Pro1250Leu |
| ENST00000375820.8:c.3749C>T | ENSP00000364979.4:p.Pro1250Leu |
| XM_011521048.1:c.3557C>T | XP_011519350.1:p.Pro1186Leu |
| XM_011521048.2:c.3557C>T | XP_011519350.1:p.Pro1186Leu |