HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775433T>G , CM000672.2:g.94775433T>G | GRCh38 |
NC_000010.10:g.96535190T>G , CM000672.1:g.96535190T>G | GRCh37 |
NC_000010.9:g.96525180T>G | NCBI36 |
NG_008384.2:g.17728T>G | |
NG_008384.3:g.17753T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.375T>G MANE Select | ENSP00000360372.3:p.Arg125= | |
ENST00000645461.1:n.1428T>G | ||
ENST00000371321.7:c.375T>G | ENSP00000360372.3:p.Arg125= | |
ENST00000464755.1:c.1138T>G | ENSP00000483243.1:n.1138T>G | |
ENST00000480405.2:c.375T>G | ENSP00000483847.1:p.Arg125= | |
NM_000769.2:c.375T>G | NP_000760.1:p.Arg125= | |
NM_000769.4:c.375T>G MANE Select | NP_000760.1:p.Arg125= |