Linked Data
ClinVar Variation Id:
1264425
ClinVar RCV Id:
RCV001676670
dbSNP Id:
rs2292334
ExAC:
6:160858188 G / A
gnomAD v2:
6-160858188-G-A
gnomAD v3:
6-160437156-G-A
gnomAD v4:
6-160437156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160437156G>A , CM000668.2:g.160437156G>A | GRCh38 |
| NC_000006.11:g.160858188G>A , CM000668.1:g.160858188G>A | GRCh37 |
| NC_000006.10:g.160778178G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000275300.3:c.1233G>A MANE Select | ENSP00000275300.2:p.Ala411= | |
| ENST00000275300.2:c.1233G>A | ENSP00000275300.2:p.Ala411= | |
| NM_021977.3:c.1233G>A | NP_068812.1:p.Ala411= | |
| XM_005267106.3:c.840G>A | XP_005267163.1:p.Ala280= | |
| XM_011536075.1:c.777G>A | XP_011534377.1:p.Ala259= | |
| XM_011536076.1:c.777G>A | XP_011534378.1:p.Ala259= | |
| XM_011536077.1:c.777G>A | XP_011534379.1:p.Ala259= | |
| XR_245546.1:n.1018-5605G>A | ||
| XM_005267106.5:c.840G>A | XP_005267163.1:p.Ala280= | |
| XM_011536075.2:c.777G>A | XP_011534377.1:p.Ala259= | |
| XM_011536076.3:c.777G>A | XP_011534378.1:p.Ala259= | |
| XM_017011203.2:c.777G>A | XP_016866692.1:p.Ala259= | |
| XR_001743588.1:n.1177G>A | ||
| XR_001743589.1:n.1018-5605G>A | ||
| NM_021977.4:c.1233G>A MANE Select | NP_068812.1:p.Ala411= |