HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022478G>A , CM000685.2:g.155022478G>A | GRCh38 |
NC_000023.10:g.154250753G>A , CM000685.1:g.154250753G>A | GRCh37 |
NC_000023.9:g.153903947G>A | NCBI36 |
NG_011403.1:g.5246C>T | |
NG_011403.2:g.5246C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.75C>T MANE Select | ENSP00000353393.4:p.Tyr25= | |
ENST00000647125.1:c.75C>T | ENSP00000496062.1:p.Tyr25= | |
ENST00000360256.8:c.75C>T | ENSP00000353393.4:p.Tyr25= | |
ENST00000423959.5:c.38+4302C>T | ENSP00000409446.1:n.38+4302C>T | |
ENST00000453950.1:c.57C>T | ENSP00000389153.1:p.Tyr19= | |
NM_000132.3:c.75C>T | NP_000123.1:p.Tyr25= | |
XM_011531126.1:c.38+4302C>T | XP_011529428.1:n.38+4302C>T | |
NM_000132.4:c.75C>T MANE Select | NP_000123.1:p.Tyr25= |