Linked Data
ClinVar Variation Id:
819488
dbSNP Id:
rs374988261
gnomAD v2:
16-2096353-G-C
gnomAD v3:
16-2046352-G-C
gnomAD v4:
16-2046352-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046352G>C , CM000678.2:g.2046352G>C | GRCh38 |
| NC_000016.9:g.2096353G>C , CM000678.1:g.2096353G>C | GRCh37 |
| NC_000016.8:g.2036354G>C | NCBI36 |
| NG_005895.1:g.2047G>C , LRG_487:g.2047G>C | |
| NG_008412.1:g.6515C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.130C>G MANE Select | ENSP00000498421.1:p.His44Asp | |
| ENST00000651583.1:c.85C>G | ENSP00000498821.1:p.His29Asp | |
| ENST00000219066.5:c.154C>G | ENSP00000219066.1:p.His52Asp | |
| ENST00000561841.1:c.50C>G | ||
| ENST00000566380.5:c.93C>G | ||
| ENST00000568513.5:c.101C>G | ||
| NM_002528.5:c.154C>G | NP_002519.1:p.His52Asp | |
| XM_011522505.1:c.154C>G | XP_011520807.1:p.His52Asp | |
| NM_001318193.1:c.154C>G | NP_001305122.1:p.His52Asp | |
| NM_001318194.1:c.-49C>G | NP_001305123.1:n.-49C>G | |
| NM_002528.6:c.154C>G | NP_002519.1:p.His52Asp | |
| XM_017023253.1:c.154C>G | XP_016878742.1:p.His52Asp | |
| NM_001318193.2:c.130C>G | NP_001305122.2:p.His44Asp | |
| NM_002528.7:c.130C>G MANE Select | NP_002519.2:p.His44Asp | |
| NM_001318194.2:c.-49C>G | NP_001305123.1:n.-49C>G |