HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153690414G>T , CM000685.2:g.153690414G>T | GRCh38 |
NC_000023.10:g.152955869G>T , CM000685.1:g.152955869G>T | GRCh37 |
NC_000023.9:g.152609063G>T | NCBI36 |
NG_012016.1:g.7118G>T | |
NG_012016.2:g.7118G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.302G>T MANE Select | ENSP00000253122.5:p.Gly101Val | |
ENST00000675713.1:n.56G>T | ||
ENST00000253122.9:c.302G>T | ENSP00000253122.5:p.Gly101Val | |
ENST00000430077.6:c.-44G>T | ENSP00000403041.2:n.-44G>T | |
ENST00000476466.1:n.154G>T | ||
NM_001142805.1:c.302G>T | NP_001136277.1:p.Gly101Val | |
NM_001142806.1:c.-44G>T | NP_001136278.1:n.-44G>T | |
NM_005629.3:c.302G>T | NP_005620.1:p.Gly101Val | |
NM_005629.4:c.302G>T MANE Select | NP_005620.1:p.Gly101Val | |
NM_001142805.2:c.302G>T | NP_001136277.1:p.Gly101Val |