HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887128C>T , CM000681.2:g.12887128C>T | GRCh38 |
NC_000019.9:g.12997942C>T , CM000681.1:g.12997942C>T | GRCh37 |
NC_000019.8:g.12858942C>T | NCBI36 |
NG_009292.1:g.969C>T | |
NG_013087.1:g.5076G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.13G>A MANE Select | ENSP00000264834.3:p.Glu5Lys | |
ENST00000264834.4:c.13G>A | ENSP00000264834.3:p.Glu5Lys | |
NM_006563.3:c.13G>A | NP_006554.1:p.Glu5Lys | |
NM_006563.4:c.13G>A | NP_006554.1:p.Glu5Lys | |
NM_006563.5:c.13G>A MANE Select | NP_006554.1:p.Glu5Lys |