Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21571824T>G , CM000669.2:g.21571824T>G | GRCh38 |
| NC_000007.13:g.21611442T>G , CM000669.1:g.21611442T>G | GRCh37 |
| NC_000007.12:g.21577967T>G | NCBI36 |
| NG_012886.2:g.33610T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.1444T>G MANE Select | NP_001264044.1:p.Leu482Val |
| ENST00000409508.8:c.1444T>G MANE Select | ENSP00000475939.1:p.Leu482Val |
| NM_001277115.1:c.1444T>G | NP_001264044.1:p.Leu482Val |
| ENST00000328843.10:c.1444T>G | ENSP00000330671.7:p.Leu482Val |
| ENST00000409508.7:c.1444T>G | ENSP00000475939.1:p.Leu482Val |
| ENST00000620169.4:c.1444T>G | ENSP00000481693.1:p.Leu482Val |
| XR_001745114.1:n.2793+1502A>C | |
| XR_927090.1:n.563+1502A>C |