HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28844931C>G , CM000678.2:g.28844931C>G | GRCh38 |
NC_000016.9:g.28856252C>G , CM000678.1:g.28856252C>G | GRCh37 |
NC_000016.8:g.28763753C>G | NCBI36 |
NG_008964.1:g.6478G>C | |
NG_029706.2:g.3332C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313511.8:c.519+20G>C MANE Select | ENSP00000322439.3:n.519+20G>C | |
ENST00000313511.7:c.519+20G>C | ENSP00000322439.3:n.519+20G>C | |
ENST00000561644.1:n.57+20G>C | ||
ENST00000565012.1:c.*46+20G>C | ENSP00000455007.1:n.*46+20G>C | |
NM_003321.4:c.519+20G>C | NP_003312.3:n.519+20G>C | |
XM_011545928.1:c.519+20G>C | XP_011544230.1:n.519+20G>C | |
NM_001365360.1:c.519+20G>C | NP_001352289.1:n.519+20G>C | |
NM_003321.5:c.519+20G>C MANE Select | NP_003312.3:n.519+20G>C | |
NM_001365360.2:c.519+20G>C | NP_001352289.1:n.519+20G>C |