HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322936G>T , CM000677.2:g.73322936G>T | GRCh38 |
NC_000015.9:g.73615277G>T , CM000677.1:g.73615277G>T | GRCh37 |
NC_000015.8:g.71402330G>T | NCBI36 |
NG_009063.1:g.51329C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3157C>A MANE Select | ENSP00000261917.3:p.Leu1053Ile | |
ENST00000261917.3:c.3157C>A | ENSP00000261917.3:p.Leu1053Ile | |
NM_005477.2:c.3157C>A | NP_005468.1:p.Leu1053Ile | |
XM_011521148.1:c.1939C>A | XP_011519450.1:p.Leu647Ile | |
XM_011521148.2:c.1939C>A | XP_011519450.1:p.Leu647Ile | |
NM_005477.3:c.3157C>A MANE Select | NP_005468.1:p.Leu1053Ile |