HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435636A>C , CM000672.2:g.70435636A>C | GRCh38 |
NC_000010.10:g.72195392A>C , CM000672.1:g.72195392A>C | GRCh37 |
NC_000010.9:g.71865398A>C | NCBI36 |
NG_012448.1:g.11074T>G | |
NG_012448.2:g.17313T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.541T>G MANE Select | ENSP00000287139.3:p.Trp181Gly | |
ENST00000287139.7:c.541T>G | ENSP00000287139.3:p.Trp181Gly | |
ENST00000414871.1:c.376T>G | ENSP00000394468.1:p.Trp126Gly | |
NM_018055.4:c.541T>G | NP_060525.3:p.Trp181Gly | |
NM_001329906.1:c.142T>G | NP_001316835.1:p.Trp48Gly | |
XM_024448028.1:c.142T>G | XP_024303796.1:p.Trp48Gly | |
NM_018055.5:c.541T>G MANE Select | NP_060525.3:p.Trp181Gly | |
NM_001329906.2:c.142T>G | NP_001316835.1:p.Trp48Gly |