HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50905537G>T , CM000676.2:g.50905537G>T | GRCh38 |
NC_000014.8:g.51372255G>T , CM000676.1:g.51372255G>T | GRCh37 |
NC_000014.7:g.50442005G>T | NCBI36 |
NG_012796.1:g.43994C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.2399C>A MANE Select | ENSP00000216392.7:p.Thr800Lys | |
ENST00000216392.7:c.2399C>A | ENSP00000216392.7:p.Thr800Lys | |
ENST00000532462.5:c.2379+2734C>A | ENSP00000431657.1:n.2379+2734C>A | |
ENST00000544180.6:c.2297C>A | ENSP00000443787.1:p.Thr766Lys | |
NM_001163940.1:c.2297C>A | NP_001157412.1:p.Thr766Lys | |
NM_002863.4:c.2399C>A | NP_002854.3:p.Thr800Lys | |
NM_002863.5:c.2399C>A MANE Select | NP_002854.3:p.Thr800Lys | |
NM_001163940.2:c.2297C>A | NP_001157412.1:p.Thr766Lys |