Linked Data
ClinVar Variation Id:
932744
ClinVar RCV Id:
RCV001200683
dbSNP Id:
rs2071160066
gnomAD v4:
17-7220671-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220671C>A , CM000679.2:g.7220671C>A | GRCh38 |
| NC_000017.10:g.7123990C>A , CM000679.1:g.7123990C>A | GRCh37 |
| NC_000017.9:g.7064714C>A | NCBI36 |
| NG_007975.1:g.5838C>A | |
| NG_008391.2:g.4380G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.272C>A MANE Select | ENSP00000349297.5:p.Pro91Gln | |
| ENST00000322910.9:c.*227C>A | ENSP00000325395.5:n.*227C>A | |
| ENST00000350303.9:c.206C>A | ENSP00000344152.5:p.Pro69Gln | |
| ENST00000356839.9:c.272C>A | ENSP00000349297.5:p.Pro91Gln | |
| ENST00000543245.6:c.341C>A | ENSP00000438689.2:p.Pro114Gln | |
| ENST00000577191.5:n.349C>A | ||
| ENST00000577433.5:n.480C>A | ||
| ENST00000577857.5:n.229-95C>A | ||
| ENST00000578269.5:n.719C>A | ||
| ENST00000578421.1:n.480C>A | ||
| ENST00000579286.5:n.453C>A | ||
| ENST00000579886.2:c.201+145C>A | ENSP00000463246.1:n.201+145C>A | |
| ENST00000580263.5:n.436C>A | ||
| ENST00000581562.5:n.319C>A | ||
| ENST00000582056.5:n.362C>A | ||
| ENST00000582166.1:n.160C>A | ||
| ENST00000582356.5:n.471C>A | ||
| ENST00000583312.5:c.272C>A | ENSP00000467920.1:p.Pro91Gln | |
| ENST00000584103.5:c.272C>A | ENSP00000465353.1:p.Pro91Gln | |
| NM_000018.3:c.272C>A | NP_000009.1:p.Pro91Gln | |
| NM_001033859.2:c.206C>A | NP_001029031.1:p.Pro69Gln | |
| NM_001270447.1:c.341C>A | NP_001257376.1:p.Pro114Gln | |
| NM_001270448.1:c.44C>A | NP_001257377.1:p.Pro15Gln | |
| XM_006721516.2:c.272C>A | XP_006721579.2:p.Pro91Gln | |
| XM_011523829.1:c.272C>A | XP_011522131.1:p.Pro91Gln | |
| XM_011523830.1:c.272C>A | XP_011522132.1:p.Pro91Gln | |
| XR_934021.1:n.379C>A | ||
| XR_934022.1:n.379C>A | ||
| XR_934023.1:n.379C>A | ||
| XM_006721516.3:c.272C>A | XP_006721579.2:p.Pro91Gln | |
| XM_011523829.2:c.272C>A | XP_011522131.1:p.Pro91Gln | |
| XM_011523830.2:c.272C>A | XP_011522132.1:p.Pro91Gln | |
| XM_024450741.1:c.272C>A | XP_024306509.1:p.Pro91Gln | |
| XR_934021.2:n.331C>A | ||
| XR_934022.2:n.331C>A | ||
| XR_934023.2:n.331C>A | ||
| NM_000018.4:c.272C>A MANE Select | NP_000009.1:p.Pro91Gln | |
| NM_001033859.3:c.206C>A | NP_001029031.1:p.Pro69Gln | |
| NM_001270447.2:c.341C>A | NP_001257376.1:p.Pro114Gln | |
| NM_001270448.2:c.44C>A | NP_001257377.1:p.Pro15Gln |