Linked Data
ClinVar Variation Id:
366718
ClinVar RCV Id:
RCV000264259
RCV000360586
RCV001559823
RCV000560152
RCV001700365
RCV002446629
RCV004530485
dbSNP Id:
rs61752947
ExAC:
9:35061676 G / A
gnomAD v2:
9-35061676-G-A
gnomAD v3:
9-35061679-G-A
gnomAD v4:
9-35061679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35061679G>A , CM000671.2:g.35061679G>A | GRCh38 |
| NC_000009.11:g.35061676G>A , CM000671.1:g.35061676G>A | GRCh37 |
| NC_000009.10:g.35051676G>A | NCBI36 |
| NG_007887.1:g.16064C>T , LRG_657:g.16064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.1092C>T MANE Select | ENSP00000351777.6:p.Asp364= | |
| ENST00000417448.2:c.957C>T | ENSP00000399456.2:p.Asp319= | |
| ENST00000448530.6:c.957C>T | ENSP00000392088.2:p.Asp319= | |
| ENST00000480327.2:n.1230C>T | ||
| ENST00000676836.2:n.1438C>T | ||
| ENST00000677257.1:c.1086C>T | ENSP00000504354.1:p.Asp362= | |
| ENST00000678018.1:c.*1063C>T | ENSP00000503811.1:n.*1063C>T | |
| ENST00000678465.1:c.*104C>T | ENSP00000504259.1:n.*104C>T | |
| ENST00000678650.1:c.957C>T | ENSP00000503426.1:p.Asp319= | |
| ENST00000679204.2:c.1092C>T | ENSP00000503131.2:p.Asp364= | |
| ENST00000679599.1:n.1362C>T | ||
| ENST00000679647.1:c.1092C>T | ENSP00000506216.1:p.Asp364= | |
| ENST00000679800.1:n.1491C>T | ||
| ENST00000679862.1:c.957C>T | ENSP00000504990.1:p.Asp319= | |
| ENST00000679902.1:c.1092C>T | ENSP00000506338.1:p.Asp364= | |
| ENST00000680834.1:c.442C>T | ||
| ENST00000680916.1:c.1092C>T | ENSP00000505769.1:p.Asp364= | |
| ENST00000681125.1:c.174C>T | ||
| ENST00000681335.1:c.1092C>T | ENSP00000505230.1:p.Asp364= | |
| ENST00000681690.1:n.1364C>T | ||
| ENST00000358901.10:c.1092C>T | ENSP00000351777.6:p.Asp364= | |
| ENST00000493886.5:n.1366C>T | ||
| NM_007126.3:c.1092C>T , LRG_657t1:c.1092C>T | NP_009057.1:p.Asp364= | |
| NM_001354927.1:c.957C>T | NP_001341856.1:p.Asp319= | |
| NM_001354928.1:c.957C>T | NP_001341857.1:p.Asp319= | |
| NM_007126.4:c.1092C>T | NP_009057.1:p.Asp364= | |
| NM_007126.5:c.1092C>T MANE Select | NP_009057.1:p.Asp364= | |
| NM_001354927.2:c.957C>T | NP_001341856.1:p.Asp319= | |
| NM_001354928.2:c.957C>T | NP_001341857.1:p.Asp319= |