Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84433371C>T , CM000664.2:g.84433371C>T | GRCh38 |
| NC_000002.11:g.84660495C>T , CM000664.1:g.84660495C>T | GRCh37 |
| NC_000002.10:g.84514006C>T | NCBI36 |
| NG_016755.1:g.31092G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.654G>A MANE Select | NP_003840.2:p.Leu218= |
| ENST00000393868.7:c.654G>A MANE Select | ENSP00000377446.2:p.Leu218= |
| NM_003849.3:c.654G>A | NP_003840.2:p.Leu218= |
| ENST00000393868.6:c.654G>A | ENSP00000377446.2:p.Leu218= |
| ENST00000487809.1:n.401G>A | |
| ENST00000488234.1:n.111G>A | |
| ENST00000651342.1:c.*94G>A | ENSP00000498471.1:n.*94G>A |