Linked Data
ClinVar Variation Id:
376910
dbSNP Id:
rs1057520087
gnomAD v2:
1-182354983-C-G
gnomAD v4:
1-182385848-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182385848C>G , CM000663.2:g.182385848C>G | GRCh38 |
| NC_000001.10:g.182354983C>G , CM000663.1:g.182354983C>G | GRCh37 |
| NC_000001.9:g.180621606C>G | NCBI36 |
| NG_013347.2:g.11359G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331872.11:c.515G>C MANE Select | ENSP00000356537.6:p.Gly172Ala | |
| ENST00000642379.1:c.917G>C | ENSP00000494022.1:p.Gly306Ala | |
| ENST00000311223.9:c.515G>C | ENSP00000307900.5:p.Gly172Ala | |
| ENST00000331872.10:c.515G>C | ENSP00000356537.5:p.Gly172Ala | |
| ENST00000339526.8:c.515G>C | ENSP00000344958.4:p.Gly172Ala | |
| ENST00000417584.6:c.515G>C | ENSP00000398320.2:p.Gly172Ala | |
| ENST00000461447.1:n.92G>C | ||
| ENST00000463851.6:n.129-6G>C | ||
| ENST00000484996.5:n.1127G>C | ||
| ENST00000489818.5:n.534G>C | ||
| ENST00000491322.1:n.3178G>C | ||
| ENST00000621524.1:c.514G>C | ENSP00000481855.1:p.Ala172Pro | |
| NM_001033044.3:c.515G>C | NP_001028216.1:p.Gly172Ala | |
| NM_001033056.3:c.515G>C | NP_001028228.1:p.Gly172Ala | |
| NM_002065.6:c.515G>C | NP_002056.2:p.Gly172Ala | |
| XM_006711278.1:c.515G>C | XP_006711341.1:p.Gly172Ala | |
| XM_006711278.2:c.515G>C | XP_006711341.1:p.Gly172Ala | |
| NM_001033044.4:c.515G>C MANE Select | NP_001028216.1:p.Gly172Ala | |
| NM_001033056.4:c.515G>C | NP_001028228.1:p.Gly172Ala | |
| NM_002065.7:c.515G>C | NP_002056.2:p.Gly172Ala |