HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348145G= , CM000685.2:g.101348145G= | GRCh38 |
NC_000023.10:g.100603133G= , CM000685.1:g.100603133G= | GRCh37 |
NC_000023.9:g.100489789G= | NCBI36 |
NG_009616.1:g.43080C= , LRG_128:g.43080C= | |
NG_011734.1:g.5825C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.132+388C= MANE Select | ENSP00000361993.3:n.132+388C= | |
ENST00000644112.2:c.*242C= | ENSP00000494385.1:n.*242C= | |
ENST00000645279.1:c.*242C= | ENSP00000494239.1:n.*242C= | |
ENST00000647480.1:n.431C= | ||
ENST00000372902.3:c.132+388C= | ENSP00000361993.3:n.132+388C= | |
ENST00000480575.1:n.474C= | ||
NM_001145951.1:c.*242C= | NP_001139423.1:n.*242C= | |
NM_004085.3:c.132+388C= | NP_004076.1:n.132+388C= | |
NM_004085.4:c.132+388C= MANE Select | NP_004076.1:n.132+388C= | |
NM_001145951.2:c.*242C= | NP_001139423.1:n.*242C= |