Linked Data
ClinVar Variation Id:
617950
dbSNP Id:
rs372684079
ExAC:
17:7124900 T / C
gnomAD v2:
17-7124900-T-C
gnomAD v3:
17-7221581-T-C
gnomAD v4:
17-7221581-T-C
ERepo:
CA8337751/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221581T>C , CM000679.2:g.7221581T>C | GRCh38 |
| NC_000017.10:g.7124900T>C , CM000679.1:g.7124900T>C | GRCh37 |
| NC_000017.9:g.7065624T>C | NCBI36 |
| NG_007975.1:g.6748T>C | |
| NG_008391.2:g.3470A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.521T>C MANE Select | ENSP00000349297.5:p.Val174Ala | |
| ENST00000322910.9:c.*476T>C | ENSP00000325395.5:n.*476T>C | |
| ENST00000350303.9:c.455T>C | ENSP00000344152.5:p.Val152Ala | |
| ENST00000356839.9:c.521T>C | ENSP00000349297.5:p.Val174Ala | |
| ENST00000543245.6:c.590T>C | ENSP00000438689.2:p.Val197Ala | |
| ENST00000577191.5:n.598T>C | ||
| ENST00000577433.5:n.729T>C | ||
| ENST00000577857.5:n.337T>C | ||
| ENST00000579286.5:n.702T>C | ||
| ENST00000579886.2:c.359T>C | ENSP00000463246.1:p.Val120Ala | |
| ENST00000580365.1:n.252T>C | ||
| ENST00000581378.5:c.239T>C | ||
| ENST00000581562.5:n.525-371T>C | ||
| ENST00000582166.1:n.502T>C | ||
| ENST00000583312.5:c.521T>C | ENSP00000467920.1:p.Val174Ala | |
| ENST00000583760.1:n.303T>C | ||
| NM_000018.3:c.521T>C | NP_000009.1:p.Val174Ala | |
| NM_001033859.2:c.455T>C | NP_001029031.1:p.Val152Ala | |
| NM_001270447.1:c.590T>C | NP_001257376.1:p.Val197Ala | |
| NM_001270448.1:c.293T>C | NP_001257377.1:p.Val98Ala | |
| XM_006721516.2:c.521T>C | XP_006721579.2:p.Val174Ala | |
| XM_011523829.1:c.521T>C | XP_011522131.1:p.Val174Ala | |
| XM_011523830.1:c.521T>C | XP_011522132.1:p.Val174Ala | |
| XR_934021.1:n.628T>C | ||
| XR_934022.1:n.628T>C | ||
| XR_934023.1:n.628T>C | ||
| XM_006721516.3:c.521T>C | XP_006721579.2:p.Val174Ala | |
| XM_011523829.2:c.521T>C | XP_011522131.1:p.Val174Ala | |
| XM_011523830.2:c.521T>C | XP_011522132.1:p.Val174Ala | |
| XM_024450741.1:c.521T>C | XP_024306509.1:p.Val174Ala | |
| XR_934021.2:n.580T>C | ||
| XR_934022.2:n.580T>C | ||
| XR_934023.2:n.580T>C | ||
| NM_000018.4:c.521T>C MANE Select | NP_000009.1:p.Val174Ala | |
| NM_001033859.3:c.455T>C | NP_001029031.1:p.Val152Ala | |
| NM_001270447.2:c.590T>C | NP_001257376.1:p.Val197Ala | |
| NM_001270448.2:c.293T>C | NP_001257377.1:p.Val98Ala |