HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46408231C>T , CM000663.2:g.46408231C>T | GRCh38 |
NC_000001.10:g.46873903C>T , CM000663.1:g.46873903C>T | GRCh37 |
NC_000001.9:g.46646490C>T | NCBI36 |
NG_012195.1:g.18965C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243167.9:c.952-228C>T MANE Select | ENSP00000243167.8:n.952-228C>T | |
ENST00000243167.8:c.952-228C>T | ENSP00000243167.8:n.952-228C>T | |
ENST00000484697.5:c.73-228C>T | ||
ENST00000489366.2:n.167-228C>T | ||
ENST00000493735.5:n.1173-228C>T | ||
NM_001441.2:c.952-228C>T | NP_001432.2:n.952-228C>T | |
NM_001441.3:c.952-228C>T MANE Select | NP_001432.2:n.952-228C>T |