Linked Data
dbSNP Id:
rs977253881
gnomAD v2:
1-17662717-A-C
gnomAD v3:
1-17336222-A-C
gnomAD v4:
1-17336222-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336222A>C , CM000663.2:g.17336222A>C | GRCh38 |
| NC_000001.10:g.17662717A>C , CM000663.1:g.17662717A>C | GRCh37 |
| NC_000001.9:g.17535304A>C | NCBI36 |
| NG_023261.2:g.33033A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.404A>C MANE Select | ENSP00000364597.4:p.Asp135Ala | |
| NM_012387.2:c.404A>C | NP_036519.2:p.Asp135Ala | |
| XM_011541150.1:c.340+2213A>C | XP_011539452.1:n.340+2213A>C | |
| XM_011541151.1:c.404A>C | XP_011539453.1:p.Asp135Ala | |
| XM_011541152.1:c.-16A>C | XP_011539454.1:n.-16A>C | |
| XM_011541153.1:c.404A>C | XP_011539455.1:p.Asp135Ala | |
| XM_011541154.1:c.404A>C | XP_011539456.1:p.Asp135Ala | |
| XM_011541155.1:c.404A>C | XP_011539457.1:p.Asp135Ala | |
| XM_011541156.1:c.404A>C | XP_011539458.1:p.Asp135Ala | |
| XM_011541157.1:c.-309A>C | XP_011539459.1:n.-309A>C | |
| XM_011541154.2:c.404A>C | XP_011539456.1:p.Asp135Ala | |
| NM_012387.3:c.404A>C MANE Select | NP_036519.2:p.Asp135Ala |