Linked Data
ClinVar Variation Id:
3127351
ClinVar RCV Id:
RCV004424704
dbSNP Id:
rs763355453
ExAC:
7:150558262 C / G
gnomAD v2:
7-150558262-C-G
gnomAD v4:
7-150861174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150861174C>G , CM000669.2:g.150861174C>G | GRCh38 |
| NC_000007.13:g.150558262C>G , CM000669.1:g.150558262C>G | GRCh37 |
| NC_000007.12:g.150189195C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.2221C>G MANE Select | ENSP00000354193.4:p.Pro741Ala | |
| ENST00000360937.8:c.2221C>G | ENSP00000354193.4:p.Pro741Ala | |
| ENST00000416793.6:c.2278C>G | ENSP00000411613.2:p.Pro760Ala | |
| ENST00000467291.5:c.2221C>G | ENSP00000418328.1:p.Pro741Ala | |
| ENST00000480582.1:n.898C>G | ||
| ENST00000493429.5:c.2221C>G | ENSP00000418614.1:p.Pro741Ala | |
| ENST00000619575.1:c.*78C>G | ENSP00000481717.1:n.*78C>G | |
| ENST00000622116.4:c.*213C>G | ENSP00000481520.1:n.*213C>G | |
| NM_001091.3:c.2221C>G | NP_001082.2:p.Pro741Ala | |
| NM_001272072.1:c.2278C>G | NP_001259001.1:p.Pro760Ala | |
| XM_011516008.1:c.2278C>G | XP_011514310.1:p.Pro760Ala | |
| XM_011516009.1:c.2221C>G | XP_011514311.1:p.Pro741Ala | |
| XR_928169.1:n.295+15835G>C | ||
| XR_928170.1:n.425+7442G>C | ||
| XR_928171.1:n.297+15835G>C | ||
| XM_017011944.1:c.2278C>G | XP_016867433.1:p.Pro760Ala | |
| XM_017011945.1:c.2278C>G | XP_016867434.1:p.Pro760Ala | |
| XM_017011946.2:c.2278C>G | XP_016867435.1:p.Pro760Ala | |
| XM_017011947.1:c.2221C>G | XP_016867436.1:p.Pro741Ala | |
| XR_928169.2:n.301+15835G>C | ||
| XR_928171.2:n.301+15835G>C | ||
| NM_001091.4:c.2221C>G MANE Select | NP_001082.2:p.Pro741Ala | |
| NM_001272072.2:c.2278C>G | NP_001259001.1:p.Pro760Ala |