Linked Data
dbSNP Id:
rs201343646
ExAC:
13:28498645 T / A
gnomAD v2:
13-28498645-T-A
gnomAD v3:
13-27924508-T-A
gnomAD v4:
13-27924508-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924508T>A , CM000675.2:g.27924508T>A | GRCh38 |
| NC_000013.10:g.28498645T>A , CM000675.1:g.28498645T>A | GRCh37 |
| NC_000013.9:g.27396645T>A | NCBI36 |
| NG_008183.1:g.9478T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.659T>A MANE Select | ENSP00000370421.4:p.Val220Asp | |
| ENST00000381033.4:c.659T>A | ENSP00000370421.4:p.Val220Asp | |
| NM_000209.3:c.659T>A | NP_000200.1:p.Val220Asp | |
| NM_000209.4:c.659T>A MANE Select | NP_000200.1:p.Val220Asp |