HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997046A= , CM000685.2:g.154997046A= | GRCh38 |
NC_000023.10:g.154225321A= , CM000685.1:g.154225321A= | GRCh37 |
NC_000023.9:g.153878515A= | NCBI36 |
NG_011403.1:g.30678T= | |
NG_011403.2:g.30678T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.315T= MANE Select | ENSP00000353393.4:p.Ile105= | |
ENST00000647125.1:c.*101T= | ENSP00000496062.1:n.*101T= | |
ENST00000360256.8:c.315T= | ENSP00000353393.4:p.Ile105= | |
ENST00000423959.5:c.210T= | ENSP00000409446.1:p.Ile70= | |
ENST00000453950.1:c.297T= | ENSP00000389153.1:p.Ile99= | |
NM_000132.3:c.315T= | NP_000123.1:p.Ile105= | |
XM_011531126.1:c.210T= | XP_011529428.1:p.Ile70= | |
NM_000132.4:c.315T= MANE Select | NP_000123.1:p.Ile105= |