Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119677025T>G , CM000672.2:g.119677025T>G | GRCh38 |
| NC_000010.10:g.121436537T>G , CM000672.1:g.121436537T>G | GRCh37 |
| NC_000010.9:g.121426527T>G | NCBI36 |
| NG_016125.1:g.30656T>G , LRG_742:g.30656T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1471T>G MANE Select | ENSP00000358081.4:p.Leu491Val | |
| ENST00000369085.7:c.1471T>G | ENSP00000358081.3:p.Leu491Val | |
| NM_004281.3:c.1471T>G , LRG_742t1:c.1471T>G | NP_004272.2:p.Leu491Val | |
| XM_005270287.1:c.1468T>G | XP_005270344.1:p.Leu490Val | |
| XM_005270287.2:c.1468T>G | XP_005270344.1:p.Leu490Val | |
| NM_004281.4:c.1471T>G MANE Select | NP_004272.2:p.Leu491Val |