Linked Data
ClinVar Variation Id:
1555096
ClinVar RCV Id:
RCV002192715
dbSNP Id:
rs79531673
ExAC:
7:92163855 G / A
gnomAD v2:
7-92163855-G-A
gnomAD v3:
7-92534541-G-A
gnomAD v4:
7-92534541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92534541G>A , CM000669.2:g.92534541G>A | GRCh38 |
| NC_000007.13:g.92163855G>A , CM000669.1:g.92163855G>A | GRCh37 |
| NC_000007.12:g.92001791G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265732.10:c.588G>A MANE Select | ENSP00000265732.5:p.Pro196= | |
| ENST00000265732.9:c.588G>A | ENSP00000265732.5:p.Pro196= | |
| ENST00000481551.5:c.588G>A | ENSP00000419242.1:p.Pro196= | |
| ENST00000617438.1:c.588G>A | ENSP00000478040.1:p.Pro196= | |
| NM_032120.2:c.588G>A | NP_115496.2:p.Pro196= | |
| XM_005250636.3:c.588G>A | XP_005250693.1:p.Pro196= | |
| XM_006716149.2:c.588G>A | XP_006716212.1:p.Pro196= | |
| XM_006716150.2:c.588G>A | XP_006716213.1:p.Pro196= | |
| XM_011516619.1:c.*227G>A | XP_011514921.1:n.*227G>A | |
| NM_001363366.1:c.588G>A | NP_001350295.1:p.Pro196= | |
| NM_001363367.1:c.63G>A | NP_001350296.1:p.Pro21= | |
| NM_032120.3:c.588G>A | NP_115496.2:p.Pro196= | |
| XM_005250636.5:c.588G>A | XP_005250693.1:p.Pro196= | |
| XM_006716149.4:c.588G>A | XP_006716212.1:p.Pro196= | |
| NM_032120.4:c.588G>A MANE Select | NP_115496.2:p.Pro196= |