Linked Data
ClinVar Variation Id:
2356726
ClinVar RCV Id:
RCV004193409
dbSNP Id:
rs776404063
ExAC:
17:74382089 C / T
gnomAD v2:
17-74382089-C-T
gnomAD v4:
17-76386008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76386008C>T , CM000679.2:g.76386008C>T | GRCh38 |
| NC_000017.10:g.74382089C>T , CM000679.1:g.74382089C>T | GRCh37 |
| NC_000017.9:g.71893684C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592299.6:c.34C>T MANE Select | ENSP00000465726.2:p.Pro12Ser | |
| ENST00000323374.8:c.292C>T | ENSP00000313681.3:p.Pro98Ser | |
| ENST00000392496.3:c.34C>T | ENSP00000376285.2:p.Pro12Ser | |
| ENST00000545180.5:c.34C>T | ENSP00000440970.1:p.Pro12Ser | |
| ENST00000588682.5:c.34C>T | ENSP00000466422.1:p.Pro12Ser | |
| ENST00000590379.5:c.34C>T | ENSP00000465002.1:p.Pro12Ser | |
| ENST00000590959.5:c.76C>T | ENSP00000468547.1:p.Pro26Ser | |
| ENST00000591762.1:n.1111C>T | ||
| ENST00000592299.5:c.34C>T | ENSP00000465726.1:p.Pro12Ser | |
| NM_001142601.1:c.34C>T | NP_001136073.1:p.Pro12Ser | |
| NM_001142602.1:c.34C>T | NP_001136074.1:p.Pro12Ser | |
| NM_021972.3:c.76C>T | NP_068807.2:p.Pro26Ser | |
| NM_182965.2:c.292C>T | NP_892010.2:p.Pro98Ser | |
| XM_005257766.2:c.34C>T | XP_005257823.1:p.Pro12Ser | |
| XM_011525439.1:c.34C>T | XP_011523741.1:p.Pro12Ser | |
| NM_001355139.1:c.34C>T | NP_001342068.1:p.Pro12Ser | |
| NM_001142601.2:c.34C>T MANE Select | NP_001136073.1:p.Pro12Ser | |
| NM_001142602.2:c.34C>T | NP_001136074.1:p.Pro12Ser | |
| NM_001355139.2:c.34C>T | NP_001342068.1:p.Pro12Ser | |
| NM_021972.4:c.76C>T | NP_068807.2:p.Pro26Ser | |
| NM_182965.3:c.292C>T | NP_892010.2:p.Pro98Ser |