Linked Data
ClinVar Variation Id:
566129
ClinVar RCV Id:
RCV000685865
dbSNP Id:
rs1384021857
gnomAD v3:
17-7223678-A-C
gnomAD v4:
17-7223678-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223678A>C , CM000679.2:g.7223678A>C | GRCh38 |
| NC_000017.10:g.7126997A>C , CM000679.1:g.7126997A>C | GRCh37 |
| NC_000017.9:g.7067721A>C | NCBI36 |
| NG_007975.1:g.8845A>C | |
| NG_008391.2:g.1373T>G | |
| NG_033038.1:g.15867T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1217A>C MANE Select | ENSP00000349297.5:p.Gln406Pro | |
| ENST00000322910.9:c.*1172A>C | ENSP00000325395.5:n.*1172A>C | |
| ENST00000350303.9:c.1151A>C | ENSP00000344152.5:p.Gln384Pro | |
| ENST00000356839.9:c.1217A>C | ENSP00000349297.5:p.Gln406Pro | |
| ENST00000542255.6:c.75A>C | ||
| ENST00000543245.6:c.1286A>C | ENSP00000438689.2:p.Gln429Pro | |
| ENST00000578579.2:n.388A>C | ||
| ENST00000578711.1:n.174A>C | ||
| ENST00000578824.5:n.633A>C | ||
| ENST00000579425.5:n.241A>C | ||
| ENST00000579546.1:c.54A>C | ||
| ENST00000583858.5:c.246A>C | ||
| ENST00000585203.6:n.425A>C | ||
| NM_000018.3:c.1217A>C | NP_000009.1:p.Gln406Pro | |
| NM_001033859.2:c.1151A>C | NP_001029031.1:p.Gln384Pro | |
| NM_001270447.1:c.1286A>C | NP_001257376.1:p.Gln429Pro | |
| NM_001270448.1:c.989A>C | NP_001257377.1:p.Gln330Pro | |
| XM_006721516.2:c.1217A>C | XP_006721579.2:p.Gln406Pro | |
| XM_011523829.1:c.1217A>C | XP_011522131.1:p.Gln406Pro | |
| XM_011523830.1:c.1217A>C | XP_011522132.1:p.Gln406Pro | |
| XR_934021.1:n.1324A>C | ||
| XR_934022.1:n.1324A>C | ||
| XR_934023.1:n.1324A>C | ||
| XM_006721516.3:c.1217A>C | XP_006721579.2:p.Gln406Pro | |
| XM_011523829.2:c.1217A>C | XP_011522131.1:p.Gln406Pro | |
| XM_011523830.2:c.1217A>C | XP_011522132.1:p.Gln406Pro | |
| XM_024450741.1:c.1217A>C | XP_024306509.1:p.Gln406Pro | |
| XR_934021.2:n.1276A>C | ||
| XR_934022.2:n.1276A>C | ||
| XR_934023.2:n.1276A>C | ||
| NM_000018.4:c.1217A>C MANE Select | NP_000009.1:p.Gln406Pro | |
| NM_001033859.3:c.1151A>C | NP_001029031.1:p.Gln384Pro | |
| NM_001270447.2:c.1286A>C | NP_001257376.1:p.Gln429Pro | |
| NM_001270448.2:c.989A>C | NP_001257377.1:p.Gln330Pro |