HGVS | Genome Assembly |
---|---|
NC_000023.11:g.22033055G>C , CM000685.2:g.22033055G>C | GRCh38 |
NC_000023.10:g.22051173G>C , CM000685.1:g.22051173G>C | GRCh37 |
NC_000023.9:g.21961094G>C | NCBI36 |
NG_007563.2:g.5253G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000475778.2:n.476G>C | ||
ENST00000683214.1:n.476G>C | ||
ENST00000684143.1:c.50G>C | ENSP00000508264.1:p.Arg17Thr | |
ENST00000379374.5:c.50G>C MANE Select | ENSP00000368682.4:p.Arg17Thr | |
ENST00000379374.4:c.50G>C | ENSP00000368682.4:p.Arg17Thr | |
NM_000444.5:c.50G>C | NP_000435.3:p.Arg17Thr | |
NM_001282754.1:c.50G>C | NP_001269683.1:p.Arg17Thr | |
XM_011545535.1:c.50G>C | XP_011543837.1:p.Arg17Thr | |
XR_001755695.1:n.729G>C | ||
NM_000444.6:c.50G>C MANE Select | NP_000435.3:p.Arg17Thr | |
NM_001282754.2:c.50G>C | NP_001269683.1:p.Arg17Thr |