HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41860768C>T , CM000681.2:g.41860768C>T | GRCh38 |
NC_000019.9:g.42364838C>T , CM000681.1:g.42364838C>T | GRCh37 |
NC_000019.8:g.47056678C>T | NCBI36 |
NG_007080.2:g.5851C>T | |
NG_007080.3:g.5851C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000598261.2:c.1-7C>T | ENSP00000469798.1:n.1-7C>T | |
ENST00000598742.6:c.1-7C>T MANE Select | ENSP00000470972.1:n.1-7C>T | |
ENST00000600467.6:c.1-7C>T | ENSP00000469228.2:n.1-7C>T | |
ENST00000221975.6:c.-212-17C>T | ENSP00000221975.2:n.-212-17C>T | |
ENST00000593863.5:c.1-7C>T | ENSP00000470004.1:n.1-7C>T | |
ENST00000598466.5:n.36-7C>T | ||
ENST00000598742.5:c.1-7C>T | ENSP00000470972.1:n.1-7C>T | |
ENST00000600467.5:c.1-7C>T | ENSP00000469228.1:n.1-7C>T | |
ENST00000601492.5:c.1-7C>T | ENSP00000471621.1:n.1-7C>T | |
NM_001022.3:c.1-7C>T | NP_001013.1:n.1-7C>T | |
NM_001321483.1:c.1-7C>T | NP_001308412.1:n.1-7C>T | |
NM_001321484.1:c.1-7C>T | NP_001308413.1:n.1-7C>T | |
NM_001321485.1:c.1-7C>T | NP_001308414.1:n.1-7C>T | |
XM_017027113.2:c.1-7C>T | XP_016882602.1:n.1-7C>T | |
NM_001022.4:c.1-7C>T MANE Select | NP_001013.1:n.1-7C>T | |
NM_001321483.2:c.1-7C>T | NP_001308412.1:n.1-7C>T | |
NM_001321484.2:c.1-7C>T | NP_001308413.1:n.1-7C>T | |
NM_001321485.2:c.1-7C>T | NP_001308414.1:n.1-7C>T |