HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8745825G>A , CM000665.2:g.8745825G>A | GRCh38 |
NC_000003.11:g.8787511G>A , CM000665.1:g.8787511G>A | GRCh37 |
NC_000003.10:g.8762511G>A | NCBI36 |
NG_008797.2:g.17016G>A , LRG_329:g.17016G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343849.3:c.414G>A MANE Select | ENSP00000341940.2:p.Gln138= | |
ENST00000343849.2:c.414G>A | ENSP00000341940.2:p.Gln138= | |
ENST00000397368.2:c.414G>A | ENSP00000380525.2:p.Gln138= | |
ENST00000472766.1:n.155+11835G>A | ||
NM_001234.4:c.414G>A | NP_001225.1:p.Gln138= | |
NM_033337.2:c.414G>A , LRG_329t1:c.414G>A | NP_203123.1:p.Gln138= | |
NM_001234.5:c.414G>A | NP_001225.1:p.Gln138= | |
NM_033337.3:c.414G>A MANE Select | NP_203123.1:p.Gln138= |