Linked Data
ClinVar Variation Id:
16138
dbSNP Id:
rs104894010
gnomAD v4:
7-44151048-A-G
PubMed:
PMID:8495817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44151048A>G , CM000669.2:g.44151048A>G | GRCh38 |
| NC_000007.13:g.44190647A>G , CM000669.1:g.44190647A>G | GRCh37 |
| NC_000007.12:g.44157172A>G | NCBI36 |
| NG_008847.1:g.43376T>C | |
| NG_008847.2:g.52123T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*389T>C | ENSP00000379142.4:n.*389T>C | |
| ENST00000616242.5:c.391T>C | ENSP00000482149.2:p.Ser131Pro | |
| ENST00000682635.1:n.877T>C | ||
| ENST00000345378.7:c.394T>C | ENSP00000223366.2:p.Ser132Pro | |
| ENST00000403799.8:c.391T>C MANE Select | ENSP00000384247.3:p.Ser131Pro | |
| ENST00000671824.1:c.391T>C | ENSP00000500264.1:p.Ser131Pro | |
| ENST00000673284.1:c.391T>C | ENSP00000499852.1:p.Ser131Pro | |
| ENST00000345378.6:c.394T>C | ENSP00000223366.2:p.Ser132Pro | |
| ENST00000395796.7:c.388T>C | ENSP00000379142.3:p.Ser130Pro | |
| ENST00000403799.7:c.391T>C | ENSP00000384247.3:p.Ser131Pro | |
| ENST00000437084.1:c.364-24T>C | ENSP00000402840.1:n.364-24T>C | |
| ENST00000616242.4:c.388T>C | ENSP00000482149.1:p.Ser130Pro | |
| NM_000162.3:c.391T>C | NP_000153.1:p.Ser131Pro | |
| NM_033507.1:c.394T>C | NP_277042.1:p.Ser132Pro | |
| NM_033508.1:c.388T>C | NP_277043.1:p.Ser130Pro | |
| NM_000162.4:c.391T>C | NP_000153.1:p.Ser131Pro | |
| NM_001354800.1:c.391T>C | NP_001341729.1:p.Ser131Pro | |
| NM_033507.2:c.394T>C | NP_277042.1:p.Ser132Pro | |
| NM_033508.2:c.388T>C | NP_277043.1:p.Ser130Pro | |
| NM_000162.5:c.391T>C MANE Select | NP_000153.1:p.Ser131Pro | |
| NM_033507.3:c.394T>C | NP_277042.1:p.Ser132Pro | |
| NM_033508.3:c.388T>C | NP_277043.1:p.Ser130Pro |