Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63964592A>G , CM000679.2:g.63964592A>G | GRCh38 |
| NC_000017.10:g.62041952A>G , CM000679.1:g.62041952A>G | GRCh37 |
| NC_000017.9:g.59395684A>G | NCBI36 |
| NG_011699.1:g.13327T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.1328T>C MANE Select | NP_000325.4:p.Leu443Pro |
| ENST00000435607.3:c.1328T>C MANE Select | ENSP00000396320.1:p.Leu443Pro |
| ENST00000578147.5:c.1328T>C | ENSP00000463963.1:p.Leu443Pro |
| XM_005257566.3:c.1328T>C | XP_005257623.1:p.Leu443Pro |
| XR_001752969.1:n.1495A>G | |
| XR_001752970.1:n.447A>G | |
| XR_934910.1:n.218A>G | |
| XR_934910.2:n.1370A>G |