Linked Data
ClinVar Variation Id:
305167
dbSNP Id:
rs200213584
ExAC:
11:62382161 G / A
gnomAD v2:
11-62382161-G-A
gnomAD v3:
11-62614689-G-A
gnomAD v4:
11-62614689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62614689G>A , CM000673.2:g.62614689G>A | GRCh38 |
| NC_000011.9:g.62382161G>A , CM000673.1:g.62382161G>A | GRCh37 |
| NC_000011.8:g.62138737G>A | NCBI36 |
| NG_009845.1:g.6949G>A | |
| NG_031863.1:g.12487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.906G>A MANE Select | ENSP00000278833.3:p.Ala302= | |
| ENST00000278833.3:c.906G>A | ENSP00000278833.3:p.Ala302= | |
| ENST00000525947.1:c.278G>A | ENSP00000432983.1:p.Arg93Gln | |
| ENST00000534093.5:c.278G>A | ENSP00000432151.1:p.Arg93Gln | |
| NM_000327.3:c.906G>A | NP_000318.1:p.Ala302= | |
| NM_000327.4:c.906G>A MANE Select | NP_000318.2:p.Ala302= |