HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762627G>A , CM000668.2:g.34762627G>A | GRCh38 |
NC_000006.11:g.34730404G>A , CM000668.1:g.34730404G>A | GRCh37 |
NC_000006.10:g.34838382G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000244520.10:c.84G>A MANE Select | ENSP00000244520.5:p.Arg28= | |
ENST00000244520.9:c.84G>A | ENSP00000244520.5:p.Arg28= | |
ENST00000374017.3:c.147G>A | ENSP00000363129.3:p.Arg49= | |
ENST00000374018.5:c.-40G>A | ENSP00000363130.1:n.-40G>A | |
ENST00000474635.1:n.76G>A | ||
NM_003093.2:c.84G>A | NP_003084.1:p.Arg28= | |
NR_029472.1:n.491G>A | ||
NM_003093.3:c.84G>A MANE Select | NP_003084.1:p.Arg28= | |
NR_029472.2:n.80G>A |