Linked Data
ClinVar Variation Id:
1918759
ClinVar RCV Id:
RCV002602140
dbSNP Id:
rs576421254
ExAC:
8:55540578 A / C
gnomAD v2:
8-55540578-A-C
gnomAD v3:
8-54628018-A-C
gnomAD v4:
8-54628018-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628018A>C , CM000670.2:g.54628018A>C | GRCh38 |
| NC_000008.10:g.55540578A>C , CM000670.1:g.55540578A>C | GRCh37 |
| NC_000008.9:g.55703131A>C | NCBI36 |
| NG_009840.1:g.16952A>C | |
| NG_009840.2:g.16952A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4136A>C MANE Select | ENSP00000220676.1:p.Glu1379Ala | |
| ENST00000636932.1:c.787+5730A>C | ENSP00000489857.1:n.787+5730A>C | |
| ENST00000637698.1:c.787+5730A>C | ENSP00000490104.1:n.787+5730A>C | |
| ENST00000220676.1:c.4136A>C | ENSP00000220676.1:p.Glu1379Ala | |
| NM_006269.1:c.4136A>C | NP_006260.1:p.Glu1379Ala | |
| XM_017013721.1:c.4157A>C | XP_016869210.1:p.Glu1386Ala | |
| XM_017013722.1:c.4136A>C | XP_016869211.1:p.Glu1379Ala | |
| NM_001375654.1:c.787+5730A>C | NP_001362583.1:n.787+5730A>C | |
| NM_006269.2:c.4136A>C MANE Select | NP_006260.1:p.Glu1379Ala |