HGVS | Genome Assembly |
---|---|
NC_000015.10:g.71811817G>A , CM000677.2:g.71811817G>A | GRCh38 |
NC_000015.9:g.72104157G>A , CM000677.1:g.72104157G>A | GRCh37 |
NC_000015.8:g.69891211G>A | NCBI36 |
NG_009113.2:g.6263G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617575.5:c.297G>A MANE Select | ENSP00000482504.1:p.Gln99= | |
ENST00000617575.4:c.297G>A | ENSP00000482504.1:p.Gln99= | |
ENST00000621098.1:c.297G>A | ENSP00000479962.1:p.Gln99= | |
ENST00000621736.4:c.33G>A | ENSP00000479254.1:p.Gln11= | |
NM_014249.3:c.297G>A | NP_055064.1:p.Gln99= | |
NM_016346.3:c.297G>A | NP_057430.1:p.Gln99= | |
XM_011521146.1:c.33G>A | XP_011519448.1:p.Gln11= | |
NM_014249.4:c.297G>A MANE Select | NP_055064.1:p.Gln99= | |
NM_016346.4:c.297G>A | NP_057430.1:p.Gln99= |