Linked Data
ClinVar Variation Id:
2981160
ClinVar RCV Id:
RCV003832302
dbSNP Id:
rs748359417
ExAC:
8:55540242 C / A
gnomAD v2:
8-55540242-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627682C>A , CM000670.2:g.54627682C>A | GRCh38 |
| NC_000008.10:g.55540242C>A , CM000670.1:g.55540242C>A | GRCh37 |
| NC_000008.9:g.55702795C>A | NCBI36 |
| NG_009840.1:g.16616C>A | |
| NG_009840.2:g.16616C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.3800C>A MANE Select | ENSP00000220676.1:p.Ala1267Asp | |
| ENST00000636932.1:c.787+5394C>A | ENSP00000489857.1:n.787+5394C>A | |
| ENST00000637698.1:c.787+5394C>A | ENSP00000490104.1:n.787+5394C>A | |
| ENST00000220676.1:c.3800C>A | ENSP00000220676.1:p.Ala1267Asp | |
| NM_006269.1:c.3800C>A | NP_006260.1:p.Ala1267Asp | |
| XM_017013721.1:c.3821C>A | XP_016869210.1:p.Ala1274Asp | |
| XM_017013722.1:c.3800C>A | XP_016869211.1:p.Ala1267Asp | |
| NM_001375654.1:c.787+5394C>A | NP_001362583.1:n.787+5394C>A | |
| NM_006269.2:c.3800C>A MANE Select | NP_006260.1:p.Ala1267Asp |