Linked Data
ClinVar Variation Id:
380911
dbSNP Id:
rs1014867
ExAC:
4:126412891 C / T
gnomAD v2:
4-126412891-C-T
gnomAD v3:
4-125491736-C-T
gnomAD v4:
4-125491736-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125491736C>T , CM000666.2:g.125491736C>T | GRCh38 |
| NC_000004.11:g.126412891C>T , CM000666.1:g.126412891C>T | GRCh37 |
| NC_000004.10:g.126632341C>T | NCBI36 |
| NG_033865.1:g.180325C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394329.9:c.14920C>T MANE Select | ENSP00000377862.4:p.Pro4974Ser | |
| ENST00000674496.2:c.9691C>T | ENSP00000501473.2:p.Pro3231Ser | |
| ENST00000335110.5:c.9637C>T | ENSP00000335169.5:p.Pro3213Ser | |
| ENST00000394329.7:c.14914C>T | ENSP00000377862.3:p.Pro4972Ser | |
| NM_001291285.1:c.14917C>T | NP_001278214.1:p.Pro4973Ser | |
| NM_001291303.1:c.14920C>T | NP_001278232.1:p.Pro4974Ser | |
| NM_024582.4:c.14914C>T | NP_078858.4:p.Pro4972Ser | |
| XM_011532236.1:c.14920C>T | XP_011530538.1:p.Pro4974Ser | |
| XM_011532237.1:c.9691C>T | XP_011530539.1:p.Pro3231Ser | |
| XM_011532236.2:c.14920C>T | XP_011530538.1:p.Pro4974Ser | |
| XM_011532237.2:c.9691C>T | XP_011530539.1:p.Pro3231Ser | |
| NM_001291285.2:c.14917C>T | NP_001278214.1:p.Pro4973Ser | |
| NM_001291303.3:c.14920C>T MANE Select | NP_001278232.1:p.Pro4974Ser | |
| NM_024582.5:c.14914C>T | NP_078858.4:p.Pro4972Ser | |
| NM_001291285.3:c.14917C>T | NP_001278214.1:p.Pro4973Ser | |
| NM_024582.6:c.14914C>T | NP_078858.4:p.Pro4972Ser |