HGVS | Genome Assembly |
---|---|
NC_000023.11:g.54495170G>A , CM000685.2:g.54495170G>A | GRCh38 |
NC_000023.10:g.54521603G>A , CM000685.1:g.54521603G>A | GRCh37 |
NC_000023.9:g.54538328G>A | NCBI36 |
NG_008054.1:g.5997C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375135.4:c.263C>T MANE Select | ENSP00000364277.3:p.Ala88Val | |
ENST00000375135.3:c.263C>T | ENSP00000364277.3:p.Ala88Val | |
NM_004463.2:c.263C>T | NP_004454.2:p.Ala88Val | |
NM_004463.3:c.263C>T MANE Select | NP_004454.2:p.Ala88Val |