Linked Data
ClinVar Variation Id:
360963
dbSNP Id:
rs541473356
ExAC:
7:94052428 G / A
gnomAD v2:
7-94052428-G-A
gnomAD v3:
7-94423116-G-A
gnomAD v4:
7-94423116-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423116G>A , CM000669.2:g.94423116G>A | GRCh38 |
| NC_000007.13:g.94052428G>A , CM000669.1:g.94052428G>A | GRCh37 |
| NC_000007.12:g.93890364G>A | NCBI36 |
| NG_007405.1:g.33556G>A , LRG_2:g.33556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2563G>A MANE Select | ENSP00000297268.6:p.Ala855Thr | |
| ENST00000297268.10:c.2563G>A | ENSP00000297268.6:p.Ala855Thr | |
| ENST00000481570.5:n.646G>A | ||
| ENST00000497316.5:n.960G>A | ||
| ENST00000620463.1:c.2557G>A | ENSP00000477719.1:p.Ala853Thr | |
| NM_000089.3:c.2563G>A , LRG_2t1:c.2563G>A | NP_000080.2:p.Ala855Thr | |
| NM_000089.4:c.2563G>A MANE Select | NP_000080.2:p.Ala855Thr |