Linked Data
ClinVar Variation Id:
178217
ClinVar RCV Id:
RCV000154951
RCV000209622
RCV000415667
RCV000415702
RCV000725365
RCV000769013
RCV000621229
RCV001085058
RCV001130785
RCV001130087
RCV001130088
RCV001130089
dbSNP Id:
rs192766485
ExAC:
2:179494968 G / A
gnomAD v2:
2-179494968-G-A
gnomAD v3:
2-178630241-G-A
gnomAD v4:
2-178630241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630241G>A , CM000664.2:g.178630241G>A | GRCh38 |
| NC_000002.11:g.179494968G>A , CM000664.1:g.179494968G>A | GRCh37 |
| NC_000002.10:g.179203213G>A | NCBI36 |
| NG_011618.3:g.205562C>T , LRG_391:g.205562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36577C>T | ENSP00000343764.6:p.Pro12193Ser | |
| ENST00000342175.11:c.17662C>T | ENSP00000340554.6:p.Pro5888Ser | |
| ENST00000359218.10:c.17461C>T | ENSP00000352154.5:p.Pro5821Ser | |
| ENST00000342175.10:c.17662C>T | ENSP00000340554.6:p.Pro5888Ser | |
| ENST00000342992.10:c.36577C>T | ENSP00000343764.6:p.Pro12193Ser | |
| ENST00000359218.9:c.17461C>T | ENSP00000352154.5:p.Pro5821Ser | |
| ENST00000460472.6:c.17086C>T | ENSP00000434586.1:p.Pro5696Ser | |
| ENST00000589042.5:c.44281C>T MANE Select | ENSP00000467141.1:p.Pro14761Ser | |
| ENST00000591111.5:c.39358C>T | ENSP00000465570.1:p.Pro13120Ser | |
| ENST00000615779.4:c.39358C>T | ENSP00000483597.1:p.Pro13120Ser | |
| NM_001256850.1:c.39358C>T | NP_001243779.1:p.Pro13120Ser | |
| NM_001267550.2:c.44281C>T MANE Select | NP_001254479.2:p.Pro14761Ser | |
| NM_003319.4:c.17086C>T | NP_003310.4:p.Pro5696Ser | |
| NM_133378.4:c.36577C>T | NP_596869.4:p.Pro12193Ser | |
| NM_133432.3:c.17461C>T | NP_597676.3:p.Pro5821Ser | |
| NM_133437.4:c.17662C>T | NP_597681.4:p.Pro5888Ser | |
| XM_011511729.1:c.43378C>T | XP_011510031.1:p.Pro14460Ser | |
| XM_011511730.1:c.17272C>T | XP_011510032.1:p.Pro5758Ser | |
| XM_011511731.1:c.17131C>T | XP_011510033.1:p.Pro5711Ser | |
| XM_017004819.1:c.43174C>T | XP_016860308.1:p.Pro14392Ser | |
| XM_017004820.1:c.38572C>T | XP_016860309.1:p.Pro12858Ser | |
| XM_017004821.1:c.38569C>T | XP_016860310.1:p.Pro12857Ser | |
| XM_017004822.1:c.35611C>T | XP_016860311.1:p.Pro11871Ser | |
| XM_017004823.1:c.17227C>T | XP_016860312.1:p.Pro5743Ser | |
| XM_024453094.1:c.38722C>T | XP_024308862.1:p.Pro12908Ser | |
| XM_024453095.1:c.38719C>T | XP_024308863.1:p.Pro12907Ser | |
| XM_024453096.1:c.38152C>T | XP_024308864.1:p.Pro12718Ser | |
| XM_024453097.1:c.35494C>T | XP_024308865.1:p.Pro11832Ser | |
| XM_024453098.1:c.35413C>T | XP_024308866.1:p.Pro11805Ser | |
| XM_024453099.1:c.17176C>T | XP_024308867.1:p.Pro5726Ser | |
| XM_024453100.1:c.7030C>T | XP_024308868.1:p.Pro2344Ser |