HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28845801G>T , CM000678.2:g.28845801G>T | GRCh38 |
NC_000016.9:g.28857122G>T , CM000678.1:g.28857122G>T | GRCh37 |
NC_000016.8:g.28764623G>T | NCBI36 |
NG_008964.1:g.5608C>A | |
NG_029706.2:g.4202G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313511.8:c.247+111C>A MANE Select | ENSP00000322439.3:n.247+111C>A | |
ENST00000313511.7:c.247+111C>A | ENSP00000322439.3:n.247+111C>A | |
ENST00000565012.1:c.247+111C>A | ENSP00000455007.1:n.247+111C>A | |
NM_003321.4:c.247+111C>A | NP_003312.3:n.247+111C>A | |
XM_011545928.1:c.247+111C>A | XP_011544230.1:n.247+111C>A | |
NM_001365360.1:c.247+111C>A | NP_001352289.1:n.247+111C>A | |
NM_003321.5:c.247+111C>A MANE Select | NP_003312.3:n.247+111C>A | |
NM_001365360.2:c.247+111C>A | NP_001352289.1:n.247+111C>A |