Linked Data
ClinVar Variation Id:
230694
dbSNP Id:
rs876658713
gnomAD v2:
1-17359620-T-G
gnomAD v3:
1-17033125-T-G
gnomAD v4:
1-17033125-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17033125T>G , CM000663.2:g.17033125T>G | GRCh38 |
| NC_000001.10:g.17359620T>G , CM000663.1:g.17359620T>G | GRCh37 |
| NC_000001.9:g.17232207T>G | NCBI36 |
| NG_012340.1:g.26046A>C , LRG_316:g.26046A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.50A>C | ENSP00000481376.2:p.Asp17Ala | |
| ENST00000491274.6:c.179A>C | ENSP00000480482.2:p.Asp60Ala | |
| ENST00000375499.8:c.221A>C MANE Select | ENSP00000364649.3:p.Asp74Ala | |
| ENST00000375499.7:c.221A>C | ENSP00000364649.3:p.Asp74Ala | |
| ENST00000463045.2:c.50A>C | ENSP00000481376.1:p.Asp17Ala | |
| ENST00000466613.2:n.233A>C | ||
| ENST00000475506.1:n.138A>C | ||
| ENST00000485515.5:n.209A>C | ||
| ENST00000491274.5:c.179A>C | ENSP00000480482.1:p.Asp60Ala | |
| NM_003000.2:c.221A>C , LRG_316t1:c.221A>C | NP_002991.2:p.Asp74Ala | |
| NM_003000.3:c.221A>C MANE Select | NP_002991.2:p.Asp74Ala |