HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739311G>T , CM000674.2:g.120739311G>T | GRCh38 |
NC_000012.11:g.121177114G>T , CM000674.1:g.121177114G>T | GRCh37 |
NC_000012.10:g.119661497G>T | NCBI36 |
NG_007991.1:g.18544G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1102G>T MANE Select | ENSP00000242592.4:p.Gly368Cys | |
ENST00000242592.8:c.1102G>T | ENSP00000242592.4:p.Gly368Cys | |
ENST00000411593.2:c.1090G>T | ENSP00000401045.2:p.Gly364Cys | |
NM_000017.3:c.1102G>T | NP_000008.1:p.Gly368Cys | |
NM_001302554.1:c.1090G>T | NP_001289483.1:p.Gly364Cys | |
NM_000017.4:c.1102G>T MANE Select | NP_000008.1:p.Gly368Cys | |
NM_001302554.2:c.1090G>T | NP_001289483.1:p.Gly364Cys |