Linked Data
ClinVar Variation Id:
40420
dbSNP Id:
rs199788586
ExAC:
11:119169128 A / T
gnomAD v2:
11-119169128-A-T
gnomAD v3:
11-119298418-A-T
gnomAD v4:
11-119298418-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119298418A>T , CM000673.2:g.119298418A>T | GRCh38 |
| NC_000011.9:g.119169128A>T , CM000673.1:g.119169128A>T | GRCh37 |
| NC_000011.8:g.118674338A>T | NCBI36 |
| NG_016808.1:g.97139A>T , LRG_608:g.97139A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1764A>T | ENSP00000515005.1:n.*1764A>T | |
| ENST00000264033.6:c.2312A>T MANE Select | ENSP00000264033.3:p.Asp771Val | |
| ENST00000637974.1:c.2306A>T | ENSP00000490763.1:p.Asp769Val | |
| ENST00000264033.5:c.2312A>T | ENSP00000264033.3:p.Asp771Val | |
| ENST00000634301.1:c.47A>T | ENSP00000489556.1:p.Asp16Val | |
| ENST00000634586.1:c.2312A>T | ENSP00000489218.1:p.Asp771Val | |
| ENST00000634840.1:c.2180A>T | ENSP00000489324.1:p.Asp727Val | |
| NM_005188.3:c.2312A>T , LRG_608t1:c.2312A>T | NP_005179.2:p.Asp771Val | |
| NM_005188.4:c.2312A>T MANE Select | NP_005179.2:p.Asp771Val |