Linked Data
ClinVar Variation Id:
1543898
ClinVar RCV Id:
RCV002172576
dbSNP Id:
rs1210498938
gnomAD v2:
1-120269483-C-G
gnomAD v3:
1-119726860-C-G
gnomAD v4:
1-119726860-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726860C>G , CM000663.2:g.119726860C>G | GRCh38 |
| NC_000001.10:g.120269483C>G , CM000663.1:g.120269483C>G | GRCh37 |
| NC_000001.9:g.120071006C>G | NCBI36 |
| NG_009188.1:g.20065C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.366C>G | ENSP00000358417.5:p.Pro122= | |
| ENST00000462324.2:n.449C>G | ||
| ENST00000641023.2:c.366C>G MANE Select | ENSP00000493175.1:p.Pro122= | |
| ENST00000641074.1:c.366C>G | ENSP00000493446.1:p.Pro122= | |
| ENST00000641115.1:c.366C>G | ENSP00000493264.1:p.Pro122= | |
| ENST00000641213.1:c.*19C>G | ENSP00000493079.1:n.*19C>G | |
| ENST00000641247.1:c.*85C>G | ENSP00000492955.1:n.*85C>G | |
| ENST00000641272.1:c.300C>G | ENSP00000493432.1:p.Pro100= | |
| ENST00000641314.1:n.351C>G | ||
| ENST00000641371.1:c.280C>G | ENSP00000493305.1:p.Pro94Ala | |
| ENST00000641375.1:c.*202C>G | ENSP00000493089.1:n.*202C>G | |
| ENST00000641491.1:c.*19C>G | ENSP00000493187.1:n.*19C>G | |
| ENST00000641513.1:c.*110C>G | ENSP00000493398.1:n.*110C>G | |
| ENST00000641570.1:c.*85C>G | ENSP00000493213.1:n.*85C>G | |
| ENST00000641573.1:n.454C>G | ||
| ENST00000641587.1:c.*77C>G | ENSP00000493453.1:n.*77C>G | |
| ENST00000641597.1:c.366C>G | ENSP00000493382.1:p.Pro122= | |
| ENST00000641711.1:n.590C>G | ||
| ENST00000641756.1:c.*110C>G | ENSP00000493147.1:n.*110C>G | |
| ENST00000641811.1:c.122C>G | ||
| ENST00000641847.1:n.225C>G | ||
| ENST00000641891.1:c.*192C>G | ENSP00000493288.1:n.*192C>G | |
| ENST00000641927.1:n.306C>G | ||
| ENST00000641947.1:c.366C>G | ENSP00000492994.1:p.Pro122= | |
| ENST00000642021.1:n.488C>G | ||
| ENST00000642041.1:c.*405C>G | ENSP00000493415.1:n.*405C>G | |
| ENST00000369407.3:c.264C>G | ENSP00000358415.3:p.Pro88= | |
| ENST00000369409.8:c.366C>G | ENSP00000358417.4:p.Pro122= | |
| ENST00000462324.1:n.634C>G | ||
| ENST00000493622.5:n.555C>G | ||
| NM_006623.3:c.366C>G | NP_006614.2:p.Pro122= | |
| XM_011541226.1:c.588C>G | XP_011539528.1:p.Pro196= | |
| XM_011541227.1:c.510C>G | XP_011539529.1:p.Pro170= | |
| XM_011541228.1:c.477C>G | XP_011539530.1:p.Pro159= | |
| XM_011541229.1:c.303C>G | XP_011539531.1:p.Pro101= | |
| XM_011541230.1:c.81C>G | XP_011539532.1:p.Pro27= | |
| XM_011541231.1:c.72C>G | XP_011539533.1:p.Pro24= | |
| XM_011541226.2:c.588C>G | XP_011539528.1:p.Pro196= | |
| XM_011541227.2:c.510C>G | XP_011539529.1:p.Pro170= | |
| XM_011541228.2:c.477C>G | XP_011539530.1:p.Pro159= | |
| XM_011541231.2:c.72C>G | XP_011539533.1:p.Pro24= | |
| XM_024446338.1:c.477C>G | XP_024302106.1:p.Pro159= | |
| NM_006623.4:c.366C>G MANE Select | NP_006614.2:p.Pro122= |