Linked Data
ClinVar Variation Id:
416972
dbSNP Id:
rs72637949
ExAC:
1:43906169 G / A
gnomAD v2:
1-43906169-G-A
gnomAD v3:
1-43440498-G-A
gnomAD v4:
1-43440498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43440498G>A , CM000663.2:g.43440498G>A | GRCh38 |
| NC_000001.10:g.43906169G>A , CM000663.1:g.43906169G>A | GRCh37 |
| NC_000001.9:g.43678756G>A | NCBI36 |
| NG_029091.1:g.55614G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562955.2:c.7085G>A | ENSP00000457168.1:p.Arg2362Gln | |
| ENST00000634258.3:c.7256G>A MANE Select | ENSP00000489255.1:p.Arg2419Gln | |
| ENST00000648058.1:n.3710G>A | ||
| ENST00000649403.1:n.2006G>A | ||
| ENST00000562955.1:c.7085G>A | ENSP00000457168.1:p.Arg2362Gln | |
| ENST00000634258.1:c.7256G>A | ENSP00000489255.1:p.Arg2419Gln | |
| NM_015284.3:c.7085G>A | NP_056099.3:p.Arg2362Gln | |
| XM_005270686.2:c.7319G>A | XP_005270743.1:p.Arg2440Gln | |
| XM_006710501.2:c.7256G>A | XP_006710564.1:p.Arg2419Gln | |
| XM_011541103.1:c.7373G>A | XP_011539405.1:p.Arg2458Gln | |
| XM_011541104.1:c.7202G>A | XP_011539406.1:p.Arg2401Gln | |
| XM_011541105.1:c.7199G>A | XP_011539407.1:p.Arg2400Gln | |
| XM_011541106.1:c.7199G>A | XP_011539408.1:p.Arg2400Gln | |
| XM_011541107.1:c.6800G>A | XP_011539409.1:p.Arg2267Gln | |
| NM_001365999.1:c.7256G>A MANE Select | NP_001352928.1:p.Arg2419Gln | |
| XM_005270686.3:c.7319G>A | XP_005270743.1:p.Arg2440Gln | |
| XM_011541106.3:c.7199G>A | XP_011539408.1:p.Arg2400Gln | |
| XM_011541107.2:c.6800G>A | XP_011539409.1:p.Arg2267Gln | |
| XM_017000819.1:c.7166G>A | XP_016856308.1:p.Arg2389Gln | |
| XM_017000820.1:c.7148G>A | XP_016856309.1:p.Arg2383Gln | |
| XM_017000821.1:c.5948G>A | XP_016856310.1:p.Arg1983Gln | |
| XR_001737075.1:n.7402G>A | ||
| XR_002956151.1:n.7402G>A | ||
| NM_015284.4:c.7085G>A | NP_056099.3:p.Arg2362Gln |