HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612215G>T , CM000679.2:g.41612215G>T | GRCh38 |
NC_000017.10:g.39768467G>T , CM000679.1:g.39768467G>T | GRCh37 |
NC_000017.9:g.37021993G>T | NCBI36 |
NG_008301.1:g.5613C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.474C>A MANE Select | ENSP00000301653.3:p.Pro158= | |
ENST00000301653.8:c.474C>A | ENSP00000301653.3:p.Pro158= | |
ENST00000588319.1:n.551C>A | ||
ENST00000593067.1:c.-241C>A | ENSP00000467124.1:n.-241C>A | |
NM_005557.3:c.474C>A | NP_005548.2:p.Pro158= | |
NM_005557.4:c.474C>A MANE Select | NP_005548.2:p.Pro158= |