HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50905550T>A , CM000676.2:g.50905550T>A | GRCh38 |
NC_000014.8:g.51372268T>A , CM000676.1:g.51372268T>A | GRCh37 |
NC_000014.7:g.50442018T>A | NCBI36 |
NG_012796.1:g.43981A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.2386A>T MANE Select | ENSP00000216392.7:p.Lys796Ter | |
ENST00000216392.7:c.2386A>T | ENSP00000216392.7:p.Lys796Ter | |
ENST00000532462.5:c.2379+2721A>T | ENSP00000431657.1:n.2379+2721A>T | |
ENST00000544180.6:c.2284A>T | ENSP00000443787.1:p.Lys762Ter | |
NM_001163940.1:c.2284A>T | NP_001157412.1:p.Lys762Ter | |
NM_002863.4:c.2386A>T | NP_002854.3:p.Lys796Ter | |
NM_002863.5:c.2386A>T MANE Select | NP_002854.3:p.Lys796Ter | |
NM_001163940.2:c.2284A>T | NP_001157412.1:p.Lys762Ter |