Linked Data
ClinVar Variation Id:
5365
ClinVar RCV Id:
RCV000005696
RCV000588524
RCV001276841
RCV002293977
RCV003150926
RCV003407281
RCV003914811
dbSNP Id:
rs74315344
ExAC:
1:179544941 G / A
gnomAD v2:
1-179544941-G-A
gnomAD v3:
1-179575806-G-A
gnomAD v4:
1-179575806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575806G>A , CM000663.2:g.179575806G>A | GRCh38 |
| NC_000001.10:g.179544941G>A , CM000663.1:g.179544941G>A | GRCh37 |
| NC_000001.9:g.177811564G>A | NCBI36 |
| NG_007535.1:g.5144C>T , LRG_887:g.5144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.59C>T MANE Select | ENSP00000356587.4:p.Pro20Leu | |
| ENST00000367615.8:c.59C>T | ENSP00000356587.4:p.Pro20Leu | |
| ENST00000367616.4:c.59C>T | ENSP00000356588.4:p.Pro20Leu | |
| NM_001297575.1:c.59C>T | NP_001284504.1:p.Pro20Leu | |
| NM_014625.3:c.59C>T , LRG_887t1:c.59C>T | NP_055440.1:p.Pro20Leu | |
| XM_005245483.2:c.59C>T | XP_005245540.1:p.Pro20Leu | |
| XM_006711529.2:c.59C>T | XP_006711592.1:p.Pro20Leu | |
| XM_005245483.3:c.59C>T | XP_005245540.1:p.Pro20Leu | |
| XM_017002298.1:c.59C>T | XP_016857787.1:p.Pro20Leu | |
| XM_017002299.1:c.59C>T | XP_016857788.1:p.Pro20Leu | |
| NM_001297575.2:c.59C>T | NP_001284504.1:p.Pro20Leu | |
| NM_014625.4:c.59C>T MANE Select | NP_055440.1:p.Pro20Leu |