Linked Data
ClinVar Variation Id:
36258
dbSNP Id:
rs193922331
gnomAD v2:
7-44187325-A-G
gnomAD v3:
7-44147726-A-G
gnomAD v4:
7-44147726-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147726A>G , CM000669.2:g.44147726A>G | GRCh38 |
| NC_000007.13:g.44187325A>G , CM000669.1:g.44187325A>G | GRCh37 |
| NC_000007.12:g.44153850A>G | NCBI36 |
| NG_008847.1:g.46698T>C | |
| NG_008847.2:g.55445T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*785T>C | ENSP00000379142.4:n.*785T>C | |
| ENST00000616242.5:c.787T>C | ENSP00000482149.2:p.Ser263Pro | |
| ENST00000345378.7:c.790T>C | ENSP00000223366.2:p.Ser264Pro | |
| ENST00000403799.8:c.787T>C MANE Select | ENSP00000384247.3:p.Ser263Pro | |
| ENST00000671824.1:c.787T>C | ENSP00000500264.1:p.Ser263Pro | |
| ENST00000673284.1:c.787T>C | ENSP00000499852.1:p.Ser263Pro | |
| ENST00000345378.6:c.790T>C | ENSP00000223366.2:p.Ser264Pro | |
| ENST00000395796.7:c.784T>C | ENSP00000379142.3:p.Ser262Pro | |
| ENST00000403799.7:c.787T>C | ENSP00000384247.3:p.Ser263Pro | |
| ENST00000437084.1:c.736T>C | ENSP00000402840.1:p.Ser246Pro | |
| ENST00000616242.4:c.784T>C | ENSP00000482149.1:p.Ser262Pro | |
| NM_000162.3:c.787T>C | NP_000153.1:p.Ser263Pro | |
| NM_033507.1:c.790T>C | NP_277042.1:p.Ser264Pro | |
| NM_033508.1:c.784T>C | NP_277043.1:p.Ser262Pro | |
| XR_927223.1:n.60A>G | ||
| NM_000162.4:c.787T>C | NP_000153.1:p.Ser263Pro | |
| NM_001354800.1:c.787T>C | NP_001341729.1:p.Ser263Pro | |
| NM_033507.2:c.790T>C | NP_277042.1:p.Ser264Pro | |
| NM_033508.2:c.784T>C | NP_277043.1:p.Ser262Pro | |
| XR_927223.2:n.60A>G | ||
| NM_000162.5:c.787T>C MANE Select | NP_000153.1:p.Ser263Pro | |
| NM_033507.3:c.790T>C | NP_277042.1:p.Ser264Pro | |
| NM_033508.3:c.784T>C | NP_277043.1:p.Ser262Pro |