HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715900T>A , CM000684.2:g.37715900T>A | GRCh38 |
NC_000022.10:g.38111907T>A , CM000684.1:g.38111907T>A | GRCh37 |
NC_000022.9:g.36441853T>A | NCBI36 |
NG_012857.1:g.23913T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.594T>A MANE Select | ENSP00000496394.1:p.Pro198= | |
ENST00000344404.10:c.*77T>A | ENSP00000340312.6:n.*77T>A | |
ENST00000406386.7:c.594T>A | ENSP00000384312.3:p.Pro198= | |
ENST00000455236.4:c.1551T>A | ENSP00000477208.1:n.1551T>A | |
ENST00000492485.5:n.528T>A | ||
NM_001039141.2:c.594T>A | NP_001034230.1:p.Pro198= | |
NM_001039141.3:c.594T>A MANE Select | NP_001034230.1:p.Pro198= |