HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154993064T>A , CM000685.2:g.154993064T>A | GRCh38 |
NC_000023.10:g.154221339T>A , CM000685.1:g.154221339T>A | GRCh37 |
NC_000023.9:g.153874533T>A | NCBI36 |
NG_011403.1:g.34660A>T | |
NG_011403.2:g.34660A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.473A>T MANE Select | ENSP00000353393.4:p.Gln158Leu | |
ENST00000647125.1:c.*259A>T | ENSP00000496062.1:n.*259A>T | |
ENST00000360256.8:c.473A>T | ENSP00000353393.4:p.Gln158Leu | |
ENST00000423959.5:c.368A>T | ENSP00000409446.1:p.Gln123Leu | |
ENST00000453950.1:c.455A>T | ENSP00000389153.1:p.Gln152Leu | |
NM_000132.3:c.473A>T | NP_000123.1:p.Gln158Leu | |
XM_011531126.1:c.368A>T | XP_011529428.1:p.Gln123Leu | |
NM_000132.4:c.473A>T MANE Select | NP_000123.1:p.Gln158Leu |