Linked Data
ClinVar Variation Id:
291157
dbSNP Id:
rs200407553
ExAC:
1:5924056 C / T
gnomAD v2:
1-5924056-C-T
gnomAD v3:
1-5863996-C-T
gnomAD v4:
1-5863996-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5863996C>T , CM000663.2:g.5863996C>T | GRCh38 |
| NC_000001.10:g.5924056C>T , CM000663.1:g.5924056C>T | GRCh37 |
| NC_000001.9:g.5846643C>T | NCBI36 |
| NG_011724.2:g.133476G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378156.9:c.4034G>A MANE Select | ENSP00000367398.4:p.Gly1345Asp | |
| ENST00000378156.8:c.4034G>A | ENSP00000367398.4:p.Gly1345Asp | |
| ENST00000378161.5:n.3185G>A | ||
| ENST00000378169.7:c.*2935G>A | ENSP00000367411.3:n.*2935G>A | |
| ENST00000460696.1:n.2782G>A | ||
| ENST00000478423.6:n.3766G>A | ||
| ENST00000489180.6:c.*1845G>A | ENSP00000423747.1:n.*1845G>A | |
| NM_001291593.1:c.2495G>A | NP_001278522.1:p.Gly832Asp | |
| NM_001291594.1:c.2498G>A | NP_001278523.1:p.Gly833Asp | |
| NM_015102.4:c.4034G>A | NP_055917.1:p.Gly1345Asp | |
| NR_111987.1:n.4849G>A | ||
| XM_006710563.2:c.4034G>A | XP_006710626.1:p.Gly1345Asp | |
| XM_006710565.2:c.4034G>A | XP_006710628.1:p.Gly1345Asp | |
| XM_011541213.1:c.4031G>A | XP_011539515.1:p.Gly1344Asp | |
| XM_011541214.1:c.3992G>A | XP_011539516.1:p.Gly1331Asp | |
| XM_011541215.1:c.3923G>A | XP_011539517.1:p.Gly1308Asp | |
| XM_011541216.1:c.4034G>A | XP_011539518.1:p.Gly1345Asp | |
| XM_011541217.1:c.4034G>A | XP_011539519.1:p.Gly1345Asp | |
| XM_011541218.1:c.4034G>A | XP_011539520.1:p.Gly1345Asp | |
| XM_011541219.1:c.3980G>A | XP_011539521.1:p.Gly1327Asp | |
| XM_006710563.3:c.4034G>A | XP_006710626.1:p.Gly1345Asp | |
| XM_011541216.2:c.4034G>A | XP_011539518.1:p.Gly1345Asp | |
| XM_011541217.2:c.4034G>A | XP_011539519.1:p.Gly1345Asp | |
| XM_011541218.2:c.4034G>A | XP_011539520.1:p.Gly1345Asp | |
| XM_017000996.1:c.3989G>A | XP_016856485.1:p.Gly1330Asp | |
| XM_017000997.1:c.4034G>A | XP_016856486.1:p.Gly1345Asp | |
| XM_017000999.1:c.3506G>A | XP_016856488.1:p.Gly1169Asp | |
| XM_017001000.2:c.3506G>A | XP_016856489.1:p.Gly1169Asp | |
| XM_017001001.1:c.3236G>A | XP_016856490.1:p.Gly1079Asp | |
| XM_017001003.1:c.2495G>A | XP_016856492.1:p.Gly832Asp | |
| XR_001737114.1:n.3900G>A | ||
| XR_001737115.1:n.3885G>A | ||
| NM_015102.5:c.4034G>A MANE Select | NP_055917.1:p.Gly1345Asp | |
| NM_001291593.2:c.2495G>A | NP_001278522.1:p.Gly832Asp | |
| NM_001291594.2:c.2498G>A | NP_001278523.1:p.Gly833Asp | |
| NR_111987.2:n.4801G>A |