Linked Data
ClinVar Variation Id:
2181687
ClinVar RCV Id:
RCV002606272
dbSNP Id:
rs975926585
gnomAD v2:
6-157469820-C-T
gnomAD v3:
6-157148686-C-T
gnomAD v4:
6-157148686-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148686C>T , CM000668.2:g.157148686C>T | GRCh38 |
| NC_000006.11:g.157469820C>T , CM000668.1:g.157469820C>T | GRCh37 |
| NC_000006.10:g.157511512C>T | NCBI36 |
| NG_032093.1:g.375757C>T | |
| NG_032093.2:g.375757C>T | |
| NG_066624.1:g.377661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2824C>T | ENSP00000055163.8:p.Pro942Ser | |
| ENST00000414678.8:c.2734C>T | ENSP00000412835.3:p.Pro912Ser | |
| ENST00000637015.2:c.2824C>T | ENSP00000489729.2:p.Pro942Ser | |
| ENST00000319584.11:c.838C>T | ENSP00000313006.7:p.Pro280Ser | |
| ENST00000346085.10:c.2863C>T | ENSP00000344546.5:p.Pro955Ser | |
| ENST00000350026.10:c.2575C>T | ENSP00000055163.7:p.Pro859Ser | |
| ENST00000414678.7:c.982C>T | ENSP00000412835.2:p.Pro328Ser | |
| ENST00000452544.2:n.725C>T | ||
| ENST00000635849.1:c.145C>T | ENSP00000490948.1:p.Pro49Ser | |
| ENST00000636930.2:c.2824C>T MANE Select | ENSP00000490491.2:p.Pro942Ser | |
| ENST00000637015.1:c.63C>T | ||
| ENST00000637810.1:c.325C>T | ENSP00000489636.1:p.Pro109Ser | |
| ENST00000637904.1:c.325C>T | ENSP00000490550.1:p.Pro109Ser | |
| ENST00000647938.1:c.2614C>T | ENSP00000498155.1:p.Pro872Ser | |
| ENST00000674190.1:n.1573C>T | ||
| ENST00000319584.10:c.841C>T | ENSP00000313006.6:p.Pro281Ser | |
| ENST00000346085.9:c.2614C>T | ENSP00000344546.4:p.Pro872Ser | |
| ENST00000350026.9:c.2575C>T | ENSP00000055163.7:p.Pro859Ser | |
| ENST00000414678.6:c.982C>T | ENSP00000412835.2:p.Pro328Ser | |
| ENST00000452544.1:n.671C>T | ||
| NM_017519.2:c.2575C>T | NP_059989.2:p.Pro859Ser | |
| NM_020732.3:c.2614C>T | NP_065783.3:p.Pro872Ser | |
| XM_005267069.3:c.2575C>T | XP_005267126.2:p.Pro859Ser | |
| XM_011535984.1:c.1525C>T | XP_011534286.1:p.Pro509Ser | |
| XM_011535985.1:c.1345C>T | XP_011534287.1:p.Pro449Ser | |
| XM_011535986.1:c.1105C>T | XP_011534288.1:p.Pro369Ser | |
| XM_011535987.1:c.724C>T | XP_011534289.1:p.Pro242Ser | |
| XM_011535988.1:c.-20+15479C>T | XP_011534290.1:n.-20+15479C>T | |
| NM_001346813.1:c.2575C>T | NP_001333742.1:p.Pro859Ser | |
| NM_001363725.1:c.325C>T | NP_001350654.1:p.Pro109Ser | |
| XM_011535984.2:c.2656C>T | XP_011534286.2:p.Pro886Ser | |
| XM_011535988.3:c.-20+15479C>T | XP_011534290.1:n.-20+15479C>T | |
| XM_017011103.2:c.2656C>T | XP_016866592.1:p.Pro886Ser | |
| XM_017011104.1:c.2656C>T | XP_016866593.1:p.Pro886Ser | |
| XM_017011105.2:c.2656C>T | XP_016866594.1:p.Pro886Ser | |
| XM_017011106.2:c.2656C>T | XP_016866595.1:p.Pro886Ser | |
| XM_017011107.2:c.2476C>T | XP_016866596.1:p.Pro826Ser | |
| XR_002956289.1:n.2739C>T | ||
| NM_001363725.2:c.325C>T | NP_001350654.1:p.Pro109Ser | |
| NM_001371656.1:c.2863C>T | NP_001358585.1:p.Pro955Ser | |
| NM_001374820.1:c.2863C>T | NP_001361749.1:p.Pro955Ser | |
| NM_001374828.1:c.2824C>T MANE Select | NP_001361757.1:p.Pro942Ser | |
| NM_017519.3:c.2824C>T | NP_059989.3:p.Pro942Ser |