HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101346643C>A , CM000685.2:g.101346643C>A | GRCh38 |
NC_000023.10:g.100601631C>A , CM000685.1:g.100601631C>A | GRCh37 |
NC_000023.9:g.100488287C>A | NCBI36 |
NG_011734.1:g.7327G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.150G>T MANE Select | ENSP00000361993.3:p.Lys50Asn | |
ENST00000644112.2:c.*1744G>T | ENSP00000494385.1:n.*1744G>T | |
ENST00000645279.1:c.*344G>T | ENSP00000494239.1:n.*344G>T | |
ENST00000647480.1:n.667G>T | ||
ENST00000372902.3:c.150G>T | ENSP00000361993.3:p.Lys50Asn | |
NM_004085.3:c.150G>T | NP_004076.1:p.Lys50Asn | |
NM_004085.4:c.150G>T MANE Select | NP_004076.1:p.Lys50Asn | |
NM_001145951.2:c.*1744G>T | NP_001139423.1:n.*1744G>T |