Linked Data
ClinVar Variation Id:
158784
dbSNP Id:
rs35111108
ExAC:
12:49434355 G / C
gnomAD v2:
12-49434355-G-C
gnomAD v3:
12-49040572-G-C
gnomAD v4:
12-49040572-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49040572G>C , CM000674.2:g.49040572G>C | GRCh38 |
| NC_000012.11:g.49434355G>C , CM000674.1:g.49434355G>C | GRCh37 |
| NC_000012.10:g.47720622G>C | NCBI36 |
| NG_027827.1:g.19753C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.7198C>G | ENSP00000506726.1:p.Pro2400Ala | |
| ENST00000685166.1:c.7207C>G | ENSP00000509386.1:p.Pro2403Ala | |
| ENST00000689060.1:c.1217C>G | ||
| ENST00000689143.1:c.871C>G | ENSP00000509839.1:p.Pro291Ala | |
| ENST00000689944.1:c.1307C>G | ||
| ENST00000692637.1:c.7195C>G | ENSP00000509666.1:p.Pro2399Ala | |
| ENST00000301067.12:c.7198C>G MANE Select | ENSP00000301067.7:p.Pro2400Ala | |
| ENST00000301067.11:c.7198C>G | ENSP00000301067.7:p.Pro2400Ala | |
| NM_003482.3:c.7198C>G | NP_003473.3:p.Pro2400Ala | |
| XM_005269162.3:c.7198C>G | XP_005269219.1:p.Pro2400Ala | |
| XM_006719614.2:c.7207C>G | XP_006719677.1:p.Pro2403Ala | |
| XM_006719616.2:c.7195C>G | XP_006719679.1:p.Pro2399Ala | |
| XM_011538770.1:c.7207C>G | XP_011537072.1:p.Pro2403Ala | |
| XM_011538771.1:c.7204C>G | XP_011537073.1:p.Pro2402Ala | |
| XM_011538772.1:c.7198C>G | XP_011537074.1:p.Pro2400Ala | |
| XM_011538773.1:c.7195C>G | XP_011537075.1:p.Pro2399Ala | |
| XM_011538774.1:c.7186C>G | XP_011537076.1:p.Pro2396Ala | |
| XM_011538775.1:c.7207C>G | XP_011537077.1:p.Pro2403Ala | |
| XM_011538776.1:c.7114C>G | XP_011537078.1:p.Pro2372Ala | |
| XR_944740.1:n.9527C>G | ||
| XM_005269162.4:c.7198C>G | XP_005269219.1:p.Pro2400Ala | |
| XM_006719614.4:c.7207C>G | XP_006719677.1:p.Pro2403Ala | |
| XM_006719616.3:c.7195C>G | XP_006719679.1:p.Pro2399Ala | |
| XM_011538770.2:c.7207C>G | XP_011537072.1:p.Pro2403Ala | |
| XM_011538771.2:c.7204C>G | XP_011537073.1:p.Pro2402Ala | |
| XM_011538772.2:c.7198C>G | XP_011537074.1:p.Pro2400Ala | |
| XM_011538773.2:c.7195C>G | XP_011537075.1:p.Pro2399Ala | |
| XM_011538774.2:c.7186C>G | XP_011537076.1:p.Pro2396Ala | |
| XM_011538776.2:c.7114C>G | XP_011537078.1:p.Pro2372Ala | |
| XR_001748874.1:n.8516C>G | ||
| NM_003482.4:c.7198C>G MANE Select | NP_003473.3:p.Pro2400Ala |