Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30249058T>G , CM000679.2:g.30249058T>G | GRCh38 |
| NC_000017.10:g.28576076T>G , CM000679.1:g.28576076T>G | GRCh37 |
| NC_000017.9:g.25600202T>G | NCBI36 |
| NG_011440.1:g.47999A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000386.4:c.1327A>C MANE Select | NP_000377.1:p.Ile443Leu |
| ENST00000261714.11:c.1327A>C MANE Select | ENSP00000261714.6:p.Ile443Leu |
| NM_000386.3:c.1327A>C | NP_000377.1:p.Ile443Leu |
| ENST00000261714.10:c.1327A>C | ENSP00000261714.6:p.Ile443Leu |
| ENST00000578090.5:c.*1001A>C | ENSP00000462353.1:n.*1001A>C |
| ENST00000578795.1:n.1226A>C | |
| XR_934653.1:n.701-729T>G | |
| XR_934655.1:n.701-3016T>G |