Linked Data
ClinVar Variation Id:
341527
dbSNP Id:
rs376262583
ExAC:
22:36710265 C / T
gnomAD v2:
22-36710265-C-T
gnomAD v3:
22-36314220-C-T
gnomAD v4:
22-36314220-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36314220C>T , CM000684.2:g.36314220C>T | GRCh38 |
| NC_000022.10:g.36710265C>T , CM000684.1:g.36710265C>T | GRCh37 |
| NC_000022.9:g.35040211C>T | NCBI36 |
| NG_011884.2:g.78799G>A , LRG_567:g.78799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.1693G>A | ||
| ENST00000685801.1:c.1479G>A | ENSP00000510688.1:p.Gln493= | |
| ENST00000691109.1:n.1774G>A | ||
| ENST00000691687.1:n.2277G>A | ||
| ENST00000692930.1:n.1693G>A | ||
| ENST00000216181.11:c.1479G>A MANE Select | ENSP00000216181.6:p.Gln493= | |
| ENST00000216181.9:c.1479G>A | ENSP00000216181.5:p.Gln493= | |
| NM_002473.5:c.1479G>A , LRG_567t1:c.1479G>A | NP_002464.1:p.Gln493= | |
| XM_011530197.1:c.1479G>A | XP_011528499.1:p.Gln493= | |
| XM_011530197.2:c.1479G>A | XP_011528499.1:p.Gln493= | |
| XM_017028803.1:c.1479G>A | XP_016884292.1:p.Gln493= | |
| XM_017028804.1:c.1479G>A | XP_016884293.1:p.Gln493= | |
| XM_017028805.1:c.1479G>A | XP_016884294.1:p.Gln493= | |
| XM_017028806.1:c.1479G>A | XP_016884295.1:p.Gln493= | |
| NM_002473.6:c.1479G>A MANE Select | NP_002464.1:p.Gln493= |