Linked Data
ClinVar Variation Id:
3011481
ClinVar RCV Id:
RCV003865104
dbSNP Id:
rs56003474
ExAC:
2:98349358 G / A
gnomAD v2:
2-98349358-G-A
gnomAD v3:
2-97732895-G-A
gnomAD v4:
2-97732895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97732895G>A , CM000664.2:g.97732895G>A | GRCh38 |
| NC_000002.11:g.98349358G>A , CM000664.1:g.98349358G>A | GRCh37 |
| NC_000002.10:g.97715790G>A | NCBI36 |
| NG_007727.1:g.24328G>A , LRG_126:g.24328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.576G>A | ENSP00000513759.1:p.Arg192= | |
| ENST00000698509.1:n.716G>A | ||
| ENST00000264972.10:c.576G>A MANE Select | ENSP00000264972.5:p.Arg192= | |
| ENST00000264972.9:c.576G>A | ENSP00000264972.5:p.Arg192= | |
| ENST00000463643.5:n.437G>A | ||
| ENST00000483781.5:n.769G>A | ||
| ENST00000498836.5:n.194G>A | ||
| NM_001079.3:c.576G>A , LRG_126t1:c.576G>A | NP_001070.2:p.Arg192= | |
| XM_005264015.3:c.576G>A | XP_005264072.1:p.Arg192= | |
| XM_006712728.2:c.576G>A | XP_006712791.1:p.Arg192= | |
| XM_011511783.1:c.576G>A | XP_011510085.1:p.Arg192= | |
| XR_923018.1:n.778G>A | ||
| XR_923019.1:n.778G>A | ||
| XR_923020.1:n.778G>A | ||
| XM_017004867.1:c.945G>A | XP_016860356.1:p.Arg315= | |
| XM_017004868.1:c.945G>A | XP_016860357.1:p.Arg315= | |
| XM_017004869.1:c.945G>A | XP_016860358.1:p.Arg315= | |
| XM_017004870.1:c.945G>A | XP_016860359.1:p.Arg315= | |
| XR_001738925.1:n.2184G>A | ||
| XR_001738926.1:n.2184G>A | ||
| XR_001738927.1:n.2184G>A | ||
| NM_001079.4:c.576G>A MANE Select | NP_001070.2:p.Arg192= | |
| NM_001378594.1:c.576G>A | NP_001365523.1:p.Arg192= |