HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887083A>T , CM000681.2:g.12887083A>T | GRCh38 |
NC_000019.9:g.12997897A>T , CM000681.1:g.12997897A>T | GRCh37 |
NC_000019.8:g.12858897A>T | NCBI36 |
NG_009292.1:g.924A>T | |
NG_013087.1:g.5121T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.58T>A MANE Select | ENSP00000264834.3:p.Phe20Ile | |
ENST00000264834.4:c.58T>A | ENSP00000264834.3:p.Phe20Ile | |
NM_006563.3:c.58T>A | NP_006554.1:p.Phe20Ile | |
XM_011527642.1:c.-146T>A | XP_011525944.1:n.-146T>A | |
NM_006563.4:c.58T>A | NP_006554.1:p.Phe20Ile | |
XM_011527642.2:c.-146T>A | XP_011525944.1:n.-146T>A | |
NM_006563.5:c.58T>A MANE Select | NP_006554.1:p.Phe20Ile |