HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435530G>C , CM000672.2:g.70435530G>C | GRCh38 |
NC_000010.10:g.72195286G>C , CM000672.1:g.72195286G>C | GRCh37 |
NC_000010.9:g.71865292G>C | NCBI36 |
NG_012448.1:g.11180C>G | |
NG_012448.2:g.17419C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.647C>G MANE Select | ENSP00000287139.3:p.Ala216Gly | |
ENST00000287139.7:c.647C>G | ENSP00000287139.3:p.Ala216Gly | |
ENST00000414871.1:c.482C>G | ENSP00000394468.1:p.Ala161Gly | |
NM_018055.4:c.647C>G | NP_060525.3:p.Ala216Gly | |
NM_001329906.1:c.248C>G | NP_001316835.1:p.Ala83Gly | |
XM_024448028.1:c.248C>G | XP_024303796.1:p.Ala83Gly | |
NM_018055.5:c.647C>G MANE Select | NP_060525.3:p.Ala216Gly | |
NM_001329906.2:c.248C>G | NP_001316835.1:p.Ala83Gly |