HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348380C>A , CM000685.2:g.101348380C>A | GRCh38 |
NC_000023.10:g.100603368C>A , CM000685.1:g.100603368C>A | GRCh37 |
NC_000023.9:g.100490024C>A | NCBI36 |
NG_009616.1:g.42845G>T , LRG_128:g.42845G>T | |
NG_011734.1:g.5590G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.132+153G>T MANE Select | ENSP00000361993.3:n.132+153G>T | |
ENST00000644112.2:c.*7G>T | ENSP00000494385.1:n.*7G>T | |
ENST00000645279.1:c.*7G>T | ENSP00000494239.1:n.*7G>T | |
ENST00000647480.1:n.196G>T | ||
ENST00000372902.3:c.132+153G>T | ENSP00000361993.3:n.132+153G>T | |
ENST00000480575.1:n.239G>T | ||
NM_001145951.1:c.*7G>T | NP_001139423.1:n.*7G>T | |
NM_004085.3:c.132+153G>T | NP_004076.1:n.132+153G>T | |
NM_004085.4:c.132+153G>T MANE Select | NP_004076.1:n.132+153G>T | |
NM_001145951.2:c.*7G>T | NP_001139423.1:n.*7G>T |