Linked Data
ClinVar Variation Id:
6964
dbSNP Id:
rs267607163
gnomAD v2:
16-90001763-G-A
gnomAD v4:
16-89935355-G-A
COSMIC:
COSM975020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935355G>A , CM000678.2:g.89935355G>A | GRCh38 |
| NC_000016.9:g.90001763G>A , CM000678.1:g.90001763G>A | GRCh37 |
| NC_000016.8:g.88529264G>A | NCBI36 |
| NG_027810.1:g.18347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.904G>A MANE Select | ENSP00000320295.7:p.Ala302Thr | |
| ENST00000680788.1:n.4325G>A | ||
| ENST00000315491.11:c.904G>A | ENSP00000320295.7:p.Ala302Thr | |
| ENST00000554444.5:c.688G>A | ENSP00000451617.1:p.Ala230Thr | |
| ENST00000555576.5:c.277+1777G>A | ENSP00000452554.1:n.277+1777G>A | |
| ENST00000555609.5:c.*989G>A | ENSP00000451276.1:n.*989G>A | |
| ENST00000556922.1:c.1945G>A | ENSP00000451560.1:p.Ala649Thr | |
| NM_001197181.1:c.688G>A | NP_001184110.1:p.Ala230Thr | |
| NM_006086.3:c.904G>A | NP_006077.2:p.Ala302Thr | |
| NM_006086.4:c.904G>A MANE Select | NP_006077.2:p.Ala302Thr | |
| NM_001197181.2:c.688G>A | NP_001184110.1:p.Ala230Thr |