HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997074T= , CM000685.2:g.154997074T= | GRCh38 |
NC_000023.10:g.154225349T= , CM000685.1:g.154225349T= | GRCh37 |
NC_000023.9:g.153878543T= | NCBI36 |
NG_011403.1:g.30650A= | |
NG_011403.2:g.30650A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.287A= MANE Select | ENSP00000353393.4:p.Gln96= | |
ENST00000647125.1:c.*73A= | ENSP00000496062.1:n.*73A= | |
ENST00000360256.8:c.287A= | ENSP00000353393.4:p.Gln96= | |
ENST00000423959.5:c.182A= | ENSP00000409446.1:p.Gln61= | |
ENST00000453950.1:c.269A= | ENSP00000389153.1:p.Gln90= | |
NM_000132.3:c.287A= | NP_000123.1:p.Gln96= | |
XM_011531126.1:c.182A= | XP_011529428.1:p.Gln61= | |
NM_000132.4:c.287A= MANE Select | NP_000123.1:p.Gln96= |