HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435443T>G , CM000672.2:g.70435443T>G | GRCh38 |
NC_000010.10:g.72195199T>G , CM000672.1:g.72195199T>G | GRCh37 |
NC_000010.9:g.71865205T>G | NCBI36 |
NG_012448.1:g.11267A>C | |
NG_012448.2:g.17506A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.734A>C MANE Select | ENSP00000287139.3:p.Gln245Pro | |
ENST00000287139.7:c.734A>C | ENSP00000287139.3:p.Gln245Pro | |
ENST00000414871.1:c.569A>C | ENSP00000394468.1:p.Gln190Pro | |
NM_018055.4:c.734A>C | NP_060525.3:p.Gln245Pro | |
NM_001329906.1:c.335A>C | NP_001316835.1:p.Gln112Pro | |
XM_024448028.1:c.335A>C | XP_024303796.1:p.Gln112Pro | |
NM_018055.5:c.734A>C MANE Select | NP_060525.3:p.Gln245Pro | |
NM_001329906.2:c.335A>C | NP_001316835.1:p.Gln112Pro |