Linked Data
ClinVar Variation Id:
447473
dbSNP Id:
rs768223928
ExAC:
17:42430126 A / T
gnomAD v2:
17-42430126-A-T
gnomAD v3:
17-44352758-A-T
gnomAD v4:
17-44352758-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352758A>T , CM000679.2:g.44352758A>T | GRCh38 |
| NC_000017.10:g.42430126A>T , CM000679.1:g.42430126A>T | GRCh37 |
| NC_000017.9:g.39785652A>T | NCBI36 |
| NG_007886.1:g.12636A>T , LRG_661:g.12636A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1742A>T MANE Select | ENSP00000053867.2:p.Asp581Val | |
| ENST00000639447.1:c.1277A>T | ENSP00000492014.1:p.Asp426Val | |
| ENST00000053867.7:c.1742A>T | ENSP00000053867.2:p.Asp581Val | |
| ENST00000586242.1:c.321A>T | ||
| ENST00000586443.1:c.1272A>T | ||
| ENST00000589265.5:c.1271A>T | ENSP00000467616.1:p.Asp424Val | |
| NM_002087.3:c.1742A>T | NP_002078.1:p.Asp581Val | |
| XM_005257253.1:c.1742A>T | XP_005257310.1:p.Asp581Val | |
| XM_024450730.1:c.1742A>T | XP_024306498.1:p.Asp581Val | |
| NM_002087.4:c.1742A>T MANE Select | NP_002078.1:p.Asp581Val |