HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887121G>A , CM000681.2:g.12887121G>A | GRCh38 |
NC_000019.9:g.12997935G>A , CM000681.1:g.12997935G>A | GRCh37 |
NC_000019.8:g.12858935G>A | NCBI36 |
NG_009292.1:g.962G>A | |
NG_013087.1:g.5083C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.20C>T MANE Select | ENSP00000264834.3:p.Ala7Val | |
ENST00000264834.4:c.20C>T | ENSP00000264834.3:p.Ala7Val | |
NM_006563.3:c.20C>T | NP_006554.1:p.Ala7Val | |
XM_011527642.1:c.-184C>T | XP_011525944.1:n.-184C>T | |
NM_006563.4:c.20C>T | NP_006554.1:p.Ala7Val | |
XM_011527642.2:c.-184C>T | XP_011525944.1:n.-184C>T | |
NM_006563.5:c.20C>T MANE Select | NP_006554.1:p.Ala7Val |