HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631999T>G , CM000679.2:g.4631999T>G | GRCh38 |
NC_000017.10:g.4535294T>G , CM000679.1:g.4535294T>G | GRCh37 |
NC_000017.9:g.4482043T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.1699A>C MANE Select | ENSP00000293761.3:p.Thr567Pro | |
ENST00000570836.6:c.1699A>C | ENSP00000458832.1:p.Thr567Pro | |
ENST00000293761.7:c.1699A>C | ENSP00000293761.3:p.Thr567Pro | |
ENST00000570836.5:c.1699A>C | ENSP00000458832.1:p.Thr567Pro | |
ENST00000574640.1:c.1582A>C | ENSP00000460483.1:p.Thr528Pro | |
NM_001140.3:c.1699A>C | NP_001131.3:p.Thr567Pro | |
NM_001140.4:c.1699A>C | NP_001131.3:p.Thr567Pro | |
NM_001140.5:c.1699A>C MANE Select | NP_001131.3:p.Thr567Pro |