Linked Data
ClinVar Variation Id:
3879
dbSNP Id:
rs121907983
ExAC:
5:74016473 G / A
gnomAD v2:
5-74016473-G-A
gnomAD v3:
5-74720648-G-A
gnomAD v4:
5-74720648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74720648G>A , CM000667.2:g.74720648G>A | GRCh38 |
| NC_000005.9:g.74016473G>A , CM000667.1:g.74016473G>A | GRCh37 |
| NC_000005.8:g.74052229G>A | NCBI36 |
| NG_009770.1:g.40505G>A | |
| NG_011531.1:g.51570C>T | |
| NG_009770.2:g.85626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.1514G>A MANE Select | ENSP00000261416.7:p.Arg505Gln | |
| ENST00000261416.11:c.1514G>A | ENSP00000261416.7:p.Arg505Gln | |
| ENST00000503312.5:c.390G>A | ||
| ENST00000504459.5:n.711G>A | ||
| ENST00000505859.1:c.37G>A | ||
| ENST00000509579.1:c.-50G>A | ENSP00000424939.1:n.-50G>A | |
| ENST00000511181.5:c.839G>A | ENSP00000426285.1:p.Arg280Gln | |
| ENST00000513336.5:c.450G>A | ||
| ENST00000513539.1:n.233G>A | ||
| NM_000521.3:c.1514G>A | NP_000512.1:p.Arg505Gln | |
| NM_001292004.1:c.839G>A | NP_001278933.1:p.Arg280Gln | |
| NM_000521.4:c.1514G>A MANE Select | NP_000512.2:p.Arg505Gln | |
| NM_001292004.2:c.839G>A | NP_001278933.1:p.Arg280Gln |