Linked Data
ClinVar Variation Id:
412531
dbSNP Id:
rs200440641
ExAC:
17:8137871 G / A
gnomAD v2:
17-8137871-G-A
gnomAD v3:
17-8234553-G-A
gnomAD v4:
17-8234553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8234553G>A , CM000679.2:g.8234553G>A | GRCh38 |
| NC_000017.10:g.8137871G>A , CM000679.1:g.8137871G>A | GRCh37 |
| NC_000017.9:g.8078596G>A | NCBI36 |
| NG_032148.1:g.18543C>T | |
| NG_032148.2:g.18543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.1720C>T | ENSP00000462607.2:p.Pro574Ser | |
| ENST00000581729.2:c.1720C>T | ENSP00000462720.2:p.Pro574Ser | |
| ENST00000581967.2:n.1742C>T | ||
| ENST00000583254.2:n.1996C>T | ||
| ENST00000699849.1:c.823C>T | ENSP00000514647.1:p.Pro275Ser | |
| ENST00000699850.1:n.983C>T | ||
| ENST00000699851.1:n.1742C>T | ||
| ENST00000699852.1:c.1720C>T | ENSP00000514648.1:p.Pro574Ser | |
| ENST00000699853.1:c.1720C>T | ENSP00000514649.1:p.Pro574Ser | |
| ENST00000699854.1:n.1513C>T | ||
| ENST00000699855.1:n.1742C>T | ||
| ENST00000699856.1:c.1720C>T | ENSP00000514650.1:p.Pro574Ser | |
| ENST00000699857.1:n.1728C>T | ||
| ENST00000699858.1:c.*333C>T | ENSP00000514651.1:n.*333C>T | |
| ENST00000699859.1:c.1591C>T | ENSP00000514652.1:p.Pro531Ser | |
| ENST00000699861.1:n.1742C>T | ||
| ENST00000699862.1:n.1826C>T | ||
| ENST00000449476.7:c.1615C>T | ENSP00000396018.2:p.Pro539Ser | |
| ENST00000581671.2:n.1561C>T | ||
| ENST00000643543.1:c.*333C>T | ENSP00000494323.1:n.*333C>T | |
| ENST00000651323.1:c.1720C>T MANE Select | ENSP00000498499.1:p.Pro574Ser | |
| ENST00000315684.12:c.1720C>T | ENSP00000313759.8:p.Pro574Ser | |
| ENST00000449476.6:c.1615C>T | ENSP00000396018.2:p.Pro539Ser | |
| ENST00000581967.1:n.123C>T | ||
| ENST00000583254.1:n.250C>T | ||
| NM_025099.5:c.1720C>T | NP_079375.3:p.Pro574Ser | |
| NR_046431.1:n.1674C>T | ||
| XM_006721577.2:c.1591C>T | XP_006721640.1:p.Pro531Ser | |
| XM_006721578.2:c.1720C>T | XP_006721641.1:p.Pro574Ser | |
| XM_006721579.2:c.1720C>T | XP_006721642.1:p.Pro574Ser | |
| XM_011524010.1:c.1615C>T | XP_011522312.1:p.Pro539Ser | |
| XM_011524011.1:c.823C>T | XP_011522313.1:p.Pro275Ser | |
| XR_429823.2:n.1763C>T | ||
| XR_429824.2:n.1763C>T | ||
| XR_429825.1:n.1763C>T | ||
| NM_025099.6:c.1720C>T MANE Select | NP_079375.3:p.Pro574Ser | |
| XM_006721577.3:c.1591C>T | XP_006721640.1:p.Pro531Ser | |
| XM_006721578.3:c.1720C>T | XP_006721641.1:p.Pro574Ser | |
| XM_011524010.2:c.1615C>T | XP_011522312.1:p.Pro539Ser | |
| XM_011524011.2:c.823C>T | XP_011522313.1:p.Pro275Ser | |
| XR_001752639.1:n.1634C>T | ||
| XR_001752640.1:n.1763C>T | ||
| XR_001752641.1:n.1763C>T | ||
| XR_001752642.1:n.1763C>T | ||
| XR_001752643.1:n.1763C>T | ||
| XR_001752644.1:n.1763C>T | ||
| XR_002958073.1:n.1763C>T | ||
| XR_429823.3:n.1763C>T | ||
| XR_429824.3:n.1763C>T | ||
| NR_046431.2:n.1635C>T |