HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74740808G>C , CM000685.2:g.74740808G>C | GRCh38 |
NC_000023.10:g.73960643G>C , CM000685.1:g.73960643G>C | GRCh37 |
NC_000023.9:g.73877368G>C | NCBI36 |
NG_027726.1:g.189645C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000055682.12:c.3749C>G MANE Select | ENSP00000055682.5:p.Thr1250Ser | |
ENST00000616200.2:c.3749C>G | ENSP00000480284.1:p.Thr1250Ser | |
ENST00000642681.2:c.3749C>G | ENSP00000495800.1:p.Thr1250Ser | |
ENST00000055682.10:c.3749C>G | ENSP00000055682.5:p.Thr1250Ser | |
ENST00000616200.1:c.3749C>G | ENSP00000480284.1:p.Thr1250Ser | |
NM_001008537.2:c.3749C>G | NP_001008537.1:p.Thr1250Ser | |
XM_011530935.1:c.3749C>G | XP_011529237.1:p.Thr1250Ser | |
NM_001008537.3:c.3749C>G MANE Select | NP_001008537.1:p.Thr1250Ser |