HGVS | Genome Assembly |
---|---|
NC_000002.12:g.174754305C>G , CM000664.2:g.174754305C>G | GRCh38 |
NC_000002.11:g.175619033C>G , CM000664.1:g.175619033C>G | GRCh37 |
NC_000002.10:g.175327279C>G | NCBI36 |
NG_008172.1:g.15168G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000636168.2:c.-36G>C | ENSP00000490338.2:n.-36G>C | |
ENST00000672640.1:c.-36G>C | ENSP00000500507.1:n.-36G>C | |
ENST00000261007.9:c.529G>C | ENSP00000261007.5:p.Val177Leu | |
ENST00000348749.9:c.454G>C MANE Select | ENSP00000261008.5:p.Val152Leu | |
ENST00000409219.5:c.454G>C | ENSP00000386611.1:p.Val152Leu | |
ENST00000409323.1:c.454G>C | ENSP00000386684.1:p.Val152Leu | |
ENST00000409542.5:c.235-27G>C | ENSP00000387026.1:n.235-27G>C | |
ENST00000435083.5:c.*98G>C | ENSP00000395805.1:n.*98G>C | |
NM_000079.3:c.454G>C | NP_000070.1:p.Val152Leu | |
NM_001039523.2:c.529G>C | NP_001034612.1:p.Val177Leu | |
XM_017003256.1:c.550G>C | XP_016858745.1:p.Val184Leu | |
XM_017003257.1:c.475G>C | XP_016858746.1:p.Val159Leu | |
NM_000079.4:c.454G>C MANE Select | NP_000070.1:p.Val152Leu | |
NM_001039523.3:c.529G>C | NP_001034612.1:p.Val177Leu |