HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28845811C>A , CM000678.2:g.28845811C>A | GRCh38 |
NC_000016.9:g.28857132C>A , CM000678.1:g.28857132C>A | GRCh37 |
NC_000016.8:g.28764633C>A | NCBI36 |
NG_008964.1:g.5598G>T | |
NG_029706.2:g.4212C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313511.8:c.247+101G>T MANE Select | ENSP00000322439.3:n.247+101G>T | |
ENST00000313511.7:c.247+101G>T | ENSP00000322439.3:n.247+101G>T | |
ENST00000565012.1:c.247+101G>T | ENSP00000455007.1:n.247+101G>T | |
NM_003321.4:c.247+101G>T | NP_003312.3:n.247+101G>T | |
XM_011545928.1:c.247+101G>T | XP_011544230.1:n.247+101G>T | |
NM_001365360.1:c.247+101G>T | NP_001352289.1:n.247+101G>T | |
NM_003321.5:c.247+101G>T MANE Select | NP_003312.3:n.247+101G>T | |
NM_001365360.2:c.247+101G>T | NP_001352289.1:n.247+101G>T |