Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945597G>T , CM000665.2:g.138945597G>T | GRCh38 |
| NC_000003.11:g.138664439G>T , CM000665.1:g.138664439G>T | GRCh37 |
| NC_000003.10:g.140147129G>T | NCBI36 |
| NG_012454.1:g.6544C>A | |
| NG_029796.1:g.3364G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1126C>A MANE Select | ENSP00000497217.1:p.Leu376Ile | |
| ENST00000330315.3:c.1126C>A | ENSP00000333188.3:p.Leu376Ile | |
| NM_023067.3:c.1126C>A | NP_075555.1:p.Leu376Ile | |
| NM_023067.4:c.1126C>A MANE Select | NP_075555.1:p.Leu376Ile |