HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887107T>A , CM000681.2:g.12887107T>A | GRCh38 |
NC_000019.9:g.12997921T>A , CM000681.1:g.12997921T>A | GRCh37 |
NC_000019.8:g.12858921T>A | NCBI36 |
NG_009292.1:g.948T>A | |
NG_013087.1:g.5097A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.34A>T MANE Select | ENSP00000264834.3:p.Ser12Cys | |
ENST00000264834.4:c.34A>T | ENSP00000264834.3:p.Ser12Cys | |
NM_006563.3:c.34A>T | NP_006554.1:p.Ser12Cys | |
XM_011527642.1:c.-170A>T | XP_011525944.1:n.-170A>T | |
NM_006563.4:c.34A>T | NP_006554.1:p.Ser12Cys | |
XM_011527642.2:c.-170A>T | XP_011525944.1:n.-170A>T | |
NM_006563.5:c.34A>T MANE Select | NP_006554.1:p.Ser12Cys |