Linked Data
ClinVar Variation Id:
161232
ClinVar RCV Id:
RCV000148486
RCV000178045
RCV000346221
RCV000857942
RCV001258238
RCV001588996
RCV002371988
dbSNP Id:
rs139398993
ExAC:
9:130588920 G / A
gnomAD v2:
9-130588920-G-A
gnomAD v3:
9-127826641-G-A
gnomAD v4:
9-127826641-G-A
ERepo:
CA202695/MONDO:0008535/136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127826641G>A , CM000671.2:g.127826641G>A | GRCh38 |
| NC_000009.11:g.130588920G>A , CM000671.1:g.130588920G>A | GRCh37 |
| NC_000009.10:g.129628741G>A | NCBI36 |
| NG_009551.1:g.33128C>T , LRG_589:g.33128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-155C>T | ENSP00000479015.1:n.-155C>T | |
| ENST00000373203.9:c.392C>T MANE Select | ENSP00000362299.4:p.Pro131Leu | |
| ENST00000344849.4:c.392C>T | ENSP00000341917.3:p.Pro131Leu | |
| ENST00000373203.8:c.392C>T | ENSP00000362299.4:p.Pro131Leu | |
| ENST00000462196.1:n.292C>T | ||
| ENST00000480266.5:c.-155C>T | ENSP00000479015.1:n.-155C>T | |
| NM_000118.3:c.392C>T , LRG_589t1:c.392C>T | NP_000109.1:p.Pro131Leu | |
| NM_001114753.2:c.392C>T , LRG_589t2:c.392C>T | NP_001108225.1:p.Pro131Leu | |
| NM_001278138.1:c.-155C>T | NP_001265067.1:n.-155C>T | |
| XR_001746952.2:n.82+1183G>A | ||
| NM_001114753.3:c.392C>T MANE Select | NP_001108225.1:p.Pro131Leu | |
| NM_001278138.2:c.-155C>T | NP_001265067.1:n.-155C>T |