HGVS | Genome Assembly |
---|---|
NC_000022.11:g.17085032A>C , CM000684.2:g.17085032A>C | GRCh38 |
NC_000022.10:g.17565922A>C , CM000684.1:g.17565922A>C | GRCh37 |
NC_000022.9:g.15945922A>C | NCBI36 |
NG_028257.1:g.5072A>C , LRG_355:g.5072A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000694948.1:n.39A>C | ||
ENST00000694949.1:n.36A>C | ||
ENST00000694950.1:c.21A>C | ||
ENST00000319363.11:c.-60A>C MANE Select | ENSP00000320936.6:n.-60A>C | |
ENST00000319363.10:c.-60A>C | ENSP00000320936.6:n.-60A>C | |
ENST00000477874.1:n.79A>C | ||
ENST00000612619.1:c.-60A>C | ENSP00000479970.1:n.-60A>C | |
NM_001289905.1:c.-60A>C | NP_001276834.1:n.-60A>C | |
NM_014339.6:c.-60A>C , LRG_355t1:c.-60A>C | NP_055154.3:n.-60A>C | |
NM_014339.7:c.-60A>C MANE Select | NP_055154.3:n.-60A>C | |
NM_001289905.2:c.-60A>C | NP_001276834.1:n.-60A>C |