HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713376G>T , CM000684.2:g.37713376G>T | GRCh38 |
NC_000022.10:g.38109383G>T , CM000684.1:g.38109383G>T | GRCh37 |
NC_000022.9:g.36439329G>T | NCBI36 |
NG_012857.1:g.21389G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.421G>T MANE Select | ENSP00000496394.1:p.Ala141Ser | |
ENST00000344404.10:c.255-2387G>T | ENSP00000340312.6:n.255-2387G>T | |
ENST00000406386.7:c.421G>T | ENSP00000384312.3:p.Ala141Ser | |
ENST00000455236.4:c.1378G>T | ENSP00000477208.1:n.1378G>T | |
ENST00000492485.5:n.391-2387G>T | ||
NM_001039141.2:c.421G>T | NP_001034230.1:p.Ala141Ser | |
NM_001039141.3:c.421G>T MANE Select | NP_001034230.1:p.Ala141Ser |