Linked Data
ClinVar Variation Id:
1761427
dbSNP Id:
rs144848597
ExAC:
22:19752592 G / C
gnomAD v2:
22-19752592-G-C
gnomAD v3:
22-19765069-G-C
gnomAD v4:
22-19765069-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19765069G>C , CM000684.2:g.19765069G>C | GRCh38 |
| NC_000022.10:g.19752592G>C , CM000684.1:g.19752592G>C | GRCh37 |
| NC_000022.9:g.18132592G>C | NCBI36 |
| NG_009229.1:g.13367G>C , LRG_226:g.13367G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700274.1:c.349G>C | ENSP00000514909.1:p.Glu117Gln | |
| ENST00000649276.2:c.823G>C MANE Select | ENSP00000497003.1:p.Glu275Gln | |
| ENST00000329705.11:c.796G>C | ENSP00000331176.7:p.Glu266Gln | |
| ENST00000332710.8:c.796G>C | ENSP00000331791.4:p.Glu266Gln | |
| ENST00000359500.7:c.796G>C | ENSP00000352483.3:p.Glu266Gln | |
| ENST00000621939.1:c.796G>C | ENSP00000477982.1:p.Glu266Gln | |
| NM_005992.1:c.796G>C | NP_005983.1:p.Glu266Gln | |
| NM_080646.1:c.796G>C | NP_542377.1:p.Glu266Gln | |
| NM_080647.1:c.796G>C , LRG_226t1:c.796G>C | NP_542378.1:p.Glu266Gln | |
| XM_006724312.1:c.796G>C | XP_006724375.1:p.Glu266Gln | |
| XM_011530351.1:c.823G>C | XP_011528653.1:p.Glu275Gln | |
| XM_006724312.2:c.796G>C | XP_006724375.1:p.Glu266Gln | |
| XM_017028925.1:c.946G>C | XP_016884414.1:p.Glu316Gln | |
| XM_017028926.1:c.796G>C | XP_016884415.1:p.Glu266Gln | |
| XM_017028927.1:c.97G>C | XP_016884416.1:p.Glu33Gln | |
| XM_017028928.1:c.946G>C | XP_016884417.1:p.Glu316Gln | |
| NM_001379200.1:c.823G>C MANE Select | NP_001366129.1:p.Glu275Gln | |
| NM_080646.2:c.796G>C | NP_542377.1:p.Glu266Gln |