HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28845796T>G , CM000678.2:g.28845796T>G | GRCh38 |
NC_000016.9:g.28857117T>G , CM000678.1:g.28857117T>G | GRCh37 |
NC_000016.8:g.28764618T>G | NCBI36 |
NG_008964.1:g.5613A>C | |
NG_029706.2:g.4197T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313511.8:c.247+116A>C MANE Select | ENSP00000322439.3:n.247+116A>C | |
ENST00000313511.7:c.247+116A>C | ENSP00000322439.3:n.247+116A>C | |
ENST00000565012.1:c.247+116A>C | ENSP00000455007.1:n.247+116A>C | |
NM_003321.4:c.247+116A>C | NP_003312.3:n.247+116A>C | |
XM_011545928.1:c.247+116A>C | XP_011544230.1:n.247+116A>C | |
NM_001365360.1:c.247+116A>C | NP_001352289.1:n.247+116A>C | |
NM_003321.5:c.247+116A>C MANE Select | NP_003312.3:n.247+116A>C | |
NM_001365360.2:c.247+116A>C | NP_001352289.1:n.247+116A>C |