Linked Data
ClinVar Variation Id:
505004
dbSNP Id:
rs773960235
ExAC:
22:36745271 T / C
gnomAD v2:
22-36745271-T-C
gnomAD v3:
22-36349226-T-C
gnomAD v4:
22-36349226-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36349226T>C , CM000684.2:g.36349226T>C | GRCh38 |
| NC_000022.10:g.36745271T>C , CM000684.1:g.36745271T>C | GRCh37 |
| NC_000022.9:g.35075217T>C | NCBI36 |
| NG_011884.2:g.43793A>G , LRG_567:g.43793A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.225A>G | ||
| ENST00000685191.1:n.234A>G | ||
| ENST00000685801.1:c.11A>G | ENSP00000510688.1:p.Gln4Arg | |
| ENST00000688137.1:c.11A>G | ENSP00000510189.1:p.Gln4Arg | |
| ENST00000691296.1:c.11A>G | ENSP00000509816.1:p.Gln4Arg | |
| ENST00000691687.1:n.225A>G | ||
| ENST00000692930.1:n.225A>G | ||
| ENST00000216181.11:c.11A>G MANE Select | ENSP00000216181.6:p.Gln4Arg | |
| ENST00000216181.9:c.11A>G | ENSP00000216181.5:p.Gln4Arg | |
| ENST00000401701.1:c.11A>G | ENSP00000384631.1:p.Gln4Arg | |
| ENST00000456729.1:c.11A>G | ENSP00000414852.1:p.Gln4Arg | |
| NM_002473.5:c.11A>G , LRG_567t1:c.11A>G | NP_002464.1:p.Gln4Arg | |
| XM_011530197.1:c.11A>G | XP_011528499.1:p.Gln4Arg | |
| XM_011530197.2:c.11A>G | XP_011528499.1:p.Gln4Arg | |
| XM_017028803.1:c.11A>G | XP_016884292.1:p.Gln4Arg | |
| XM_017028804.1:c.11A>G | XP_016884293.1:p.Gln4Arg | |
| XM_017028805.1:c.11A>G | XP_016884294.1:p.Gln4Arg | |
| XM_017028806.1:c.11A>G | XP_016884295.1:p.Gln4Arg | |
| NM_002473.6:c.11A>G MANE Select | NP_002464.1:p.Gln4Arg |