HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48633484A>G , CM000681.2:g.48633484A>G | GRCh38 |
NC_000019.9:g.49136741A>G , CM000681.1:g.49136741A>G | GRCh37 |
NC_000019.8:g.53828553A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222122.10:c.722T>C MANE Select | ENSP00000222122.4:p.Met241Thr | |
ENST00000222122.9:c.722T>C | ENSP00000222122.4:p.Met241Thr | |
ENST00000593500.1:c.116T>C | ENSP00000471220.1:p.Met39Thr | |
ENST00000594723.1:n.2965T>C | ||
ENST00000599385.5:c.116T>C | ENSP00000469426.1:p.Met39Thr | |
ENST00000601104.1:c.722T>C | ENSP00000469291.1:p.Met241Thr | |
NM_001352.4:c.722T>C | NP_001343.2:p.Met241Thr | |
XM_017026388.2:c.293T>C | XP_016881877.1:p.Met98Thr | |
XR_243907.4:n.1627T>C | ||
NM_001352.5:c.722T>C MANE Select | NP_001343.2:p.Met241Thr |