Linked Data
ClinVar Variation Id:
932791
ClinVar RCV Id:
RCV001200738
dbSNP Id:
rs2071230096
gnomAD v4:
17-7221605-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221605A>C , CM000679.2:g.7221605A>C | GRCh38 |
| NC_000017.10:g.7124924A>C , CM000679.1:g.7124924A>C | GRCh37 |
| NC_000017.9:g.7065648A>C | NCBI36 |
| NG_007975.1:g.6772A>C | |
| NG_008391.2:g.3446T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.545A>C MANE Select | ENSP00000349297.5:p.Gln182Pro | |
| ENST00000322910.9:c.*500A>C | ENSP00000325395.5:n.*500A>C | |
| ENST00000350303.9:c.479A>C | ENSP00000344152.5:p.Gln160Pro | |
| ENST00000356839.9:c.545A>C | ENSP00000349297.5:p.Gln182Pro | |
| ENST00000543245.6:c.614A>C | ENSP00000438689.2:p.Gln205Pro | |
| ENST00000577191.5:n.622A>C | ||
| ENST00000577433.5:n.753A>C | ||
| ENST00000577857.5:n.361A>C | ||
| ENST00000579286.5:n.726A>C | ||
| ENST00000579886.2:c.383A>C | ENSP00000463246.1:p.Gln128Pro | |
| ENST00000580365.1:n.276A>C | ||
| ENST00000581378.5:c.263A>C | ||
| ENST00000581562.5:n.525-347A>C | ||
| ENST00000582166.1:n.526A>C | ||
| ENST00000583312.5:c.545A>C | ENSP00000467920.1:p.Gln182Pro | |
| ENST00000583760.1:n.327A>C | ||
| NM_000018.3:c.545A>C | NP_000009.1:p.Gln182Pro | |
| NM_001033859.2:c.479A>C | NP_001029031.1:p.Gln160Pro | |
| NM_001270447.1:c.614A>C | NP_001257376.1:p.Gln205Pro | |
| NM_001270448.1:c.317A>C | NP_001257377.1:p.Gln106Pro | |
| XM_006721516.2:c.545A>C | XP_006721579.2:p.Gln182Pro | |
| XM_011523829.1:c.545A>C | XP_011522131.1:p.Gln182Pro | |
| XM_011523830.1:c.545A>C | XP_011522132.1:p.Gln182Pro | |
| XR_934021.1:n.652A>C | ||
| XR_934022.1:n.652A>C | ||
| XR_934023.1:n.652A>C | ||
| XM_006721516.3:c.545A>C | XP_006721579.2:p.Gln182Pro | |
| XM_011523829.2:c.545A>C | XP_011522131.1:p.Gln182Pro | |
| XM_011523830.2:c.545A>C | XP_011522132.1:p.Gln182Pro | |
| XM_024450741.1:c.545A>C | XP_024306509.1:p.Gln182Pro | |
| XR_934021.2:n.604A>C | ||
| XR_934022.2:n.604A>C | ||
| XR_934023.2:n.604A>C | ||
| NM_000018.4:c.545A>C MANE Select | NP_000009.1:p.Gln182Pro | |
| NM_001033859.3:c.479A>C | NP_001029031.1:p.Gln160Pro | |
| NM_001270447.2:c.614A>C | NP_001257376.1:p.Gln205Pro | |
| NM_001270448.2:c.317A>C | NP_001257377.1:p.Gln106Pro |