Linked Data
ClinVar Variation Id:
204597
ClinVar RCV Id:
RCV000186594
dbSNP Id:
rs796052129
gnomAD v2:
14-58924652-A-T
gnomAD v4:
14-58457934-A-T
PubMed:
PMID:26096313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58457934A>T , CM000676.2:g.58457934A>T | GRCh38 |
| NC_000014.8:g.58924652A>T , CM000676.1:g.58924652A>T | GRCh37 |
| NC_000014.7:g.57994405A>T | NCBI36 |
| NG_051335.2:g.35550A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.1283A>T | ENSP00000481936.1:p.Asp428Val | |
| ENST00000650845.1:n.2084A>T | ||
| ENST00000650904.1:c.1538A>T | ENSP00000498606.1:p.Asp513Val | |
| ENST00000651759.1:c.287A>T | ENSP00000498415.1:p.Asp96Val | |
| ENST00000651937.1:c.1493A>T | ENSP00000498785.1:p.Asp498Val | |
| ENST00000652120.1:n.1290A>T | ||
| ENST00000652326.2:c.1538A>T MANE Select | ENSP00000498929.1:p.Asp513Val | |
| ENST00000652732.1:c.*1104A>T | ENSP00000498799.1:n.*1104A>T | |
| ENST00000261244.9:c.1538A>T | ENSP00000261244.5:p.Asp513Val | |
| ENST00000354386.10:c.1697A>T | ENSP00000346359.6:p.Asp566Val | |
| ENST00000423743.7:c.1406A>T | ENSP00000399427.3:p.Asp469Val | |
| ENST00000538571.6:n.1128A>T | ||
| ENST00000556134.5:c.1406A>T | ENSP00000452351.2:p.Asp469Val | |
| ENST00000619416.4:c.1493A>T | ENSP00000478083.1:p.Asp498Val | |
| ENST00000619722.4:c.1283A>T | ENSP00000481936.1:p.Asp428Val | |
| NM_001244189.1:c.1697A>T | NP_001231118.1:p.Asp566Val | |
| NM_001244190.1:c.1493A>T | NP_001231119.1:p.Asp498Val | |
| NM_001244191.1:c.1283A>T | NP_001231120.1:p.Asp428Val | |
| NM_001244192.1:c.1406A>T | NP_001231121.1:p.Asp469Val | |
| NM_001244193.1:c.1118A>T | NP_001231122.1:p.Asp373Val | |
| NM_014749.3:c.1538A>T | NP_055564.3:p.Asp513Val | |
| NM_001329943.2:c.1538A>T | NP_001316872.1:p.Asp513Val | |
| NM_001329944.1:c.1538A>T | NP_001316873.1:p.Asp513Val | |
| NM_001329945.1:c.1283A>T | NP_001316874.1:p.Asp428Val | |
| NM_001329946.1:c.1538A>T | NP_001316875.1:p.Asp513Val | |
| NM_001329947.1:c.1538A>T | NP_001316876.1:p.Asp513Val | |
| NM_001364700.1:c.1283A>T | NP_001351629.1:p.Asp428Val | |
| NM_001364701.1:c.1283A>T | NP_001351630.1:p.Asp428Val | |
| NM_014749.4:c.1538A>T | NP_055564.3:p.Asp513Val | |
| XM_024449779.1:c.1661A>T | XP_024305547.1:p.Asp554Val | |
| XM_024449780.1:c.1562A>T | XP_024305548.1:p.Asp521Val | |
| XM_024449781.1:c.1661A>T | XP_024305549.1:p.Asp554Val | |
| XM_024449782.1:c.1307A>T | XP_024305550.1:p.Asp436Val | |
| XM_024449783.1:c.1307A>T | XP_024305551.1:p.Asp436Val | |
| XM_024449784.1:c.1307A>T | XP_024305552.1:p.Asp436Val | |
| XM_024449785.1:c.1283A>T | XP_024305553.1:p.Asp428Val | |
| XM_024449787.1:c.1142A>T | XP_024305555.1:p.Asp381Val | |
| XM_024449788.1:c.1118A>T | XP_024305556.1:p.Asp373Val | |
| XM_024449789.1:c.1118A>T | XP_024305557.1:p.Asp373Val | |
| XM_024449791.1:c.1562A>T | XP_024305559.1:p.Asp521Val | |
| NM_001244189.2:c.1697A>T | NP_001231118.1:p.Asp566Val | |
| NM_001244190.2:c.1493A>T | NP_001231119.1:p.Asp498Val | |
| NM_001244192.2:c.1406A>T | NP_001231121.1:p.Asp469Val | |
| NM_001329943.3:c.1538A>T MANE Select | NP_001316872.1:p.Asp513Val | |
| NM_001329944.2:c.1538A>T | NP_001316873.1:p.Asp513Val | |
| NM_001329945.2:c.1283A>T | NP_001316874.1:p.Asp428Val | |
| NM_001329946.2:c.1538A>T | NP_001316875.1:p.Asp513Val | |
| NM_001329947.2:c.1538A>T | NP_001316876.1:p.Asp513Val | |
| NM_001364701.2:c.1283A>T | NP_001351630.1:p.Asp428Val | |
| NM_014749.5:c.1538A>T | NP_055564.3:p.Asp513Val | |
| NM_001244191.2:c.1283A>T | NP_001231120.1:p.Asp428Val | |
| NM_001244193.2:c.1118A>T | NP_001231122.1:p.Asp373Val |