HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74742768T>C , CM000685.2:g.74742768T>C | GRCh38 |
NC_000023.10:g.73962603T>C , CM000685.1:g.73962603T>C | GRCh37 |
NC_000023.9:g.73879328T>C | NCBI36 |
NG_027726.1:g.187685A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000055682.12:c.1789A>G MANE Select | ENSP00000055682.5:p.Thr597Ala | |
ENST00000616200.2:c.1789A>G | ENSP00000480284.1:p.Thr597Ala | |
ENST00000642681.2:c.1789A>G | ENSP00000495800.1:p.Thr597Ala | |
ENST00000055682.10:c.1789A>G | ENSP00000055682.5:p.Thr597Ala | |
ENST00000616200.1:c.1789A>G | ENSP00000480284.1:p.Thr597Ala | |
NM_001008537.2:c.1789A>G | NP_001008537.1:p.Thr597Ala | |
XM_011530935.1:c.1789A>G | XP_011529237.1:p.Thr597Ala | |
NM_001008537.3:c.1789A>G MANE Select | NP_001008537.1:p.Thr597Ala |