Linked Data
ClinVar Variation Id:
3059569
ClinVar RCV Id:
RCV003974540
dbSNP Id:
rs1134489
ExAC:
7:5257573 G / A
gnomAD v2:
7-5257573-G-A
gnomAD v3:
7-5217942-G-A
gnomAD v4:
7-5217942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5217942G>A , CM000669.2:g.5217942G>A | GRCh38 |
| NC_000007.13:g.5257573G>A , CM000669.1:g.5257573G>A | GRCh37 |
| NC_000007.12:g.5224099G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288828.9:c.597G>A MANE Select | ENSP00000288828.4:p.Pro199= | |
| ENST00000288828.8:c.597G>A | ENSP00000288828.4:p.Pro199= | |
| ENST00000382384.6:c.543G>A | ENSP00000371821.2:p.Pro181= | |
| ENST00000401525.7:c.543G>A | ENSP00000384945.3:p.Pro181= | |
| ENST00000404704.7:c.597G>A | ENSP00000385297.3:p.Pro199= | |
| ENST00000465102.5:n.360G>A | ||
| ENST00000466014.5:n.932G>A | ||
| ENST00000475309.5:n.1469G>A | ||
| ENST00000480238.5:n.295G>A | ||
| ENST00000484262.1:c.420G>A | ENSP00000429654.1:p.Pro140= | |
| ENST00000488359.1:n.303G>A | ||
| ENST00000496867.5:n.674G>A | ||
| NM_001033518.1:c.597G>A | NP_001028690.1:p.Pro199= | |
| NM_001033519.1:c.543G>A | NP_001028691.1:p.Pro181= | |
| NM_001033520.1:c.420G>A | NP_001028692.1:p.Pro140= | |
| NM_001278299.1:c.165G>A | NP_001265228.1:p.Pro55= | |
| NM_015610.3:c.597G>A | NP_056425.1:p.Pro199= | |
| NM_016003.3:c.543G>A | NP_057087.2:p.Pro181= | |
| XM_006715685.1:c.165G>A | XP_006715748.1:p.Pro55= | |
| XM_017011952.1:c.165G>A | XP_016867441.1:p.Pro55= | |
| NM_015610.4:c.597G>A MANE Select | NP_056425.1:p.Pro199= | |
| NM_001033518.2:c.597G>A | NP_001028690.1:p.Pro199= | |
| NM_001033519.2:c.543G>A | NP_001028691.1:p.Pro181= | |
| NM_001278299.2:c.165G>A | NP_001265228.1:p.Pro55= | |
| NM_016003.4:c.543G>A | NP_057087.2:p.Pro181= |