Linked Data
ClinVar Variation Id:
265230
dbSNP Id:
rs201326893
ExAC:
16:89986122 C / A
gnomAD v2:
16-89986122-C-A
gnomAD v3:
16-89919714-C-A
gnomAD v4:
16-89919714-C-A
COSMIC:
COSM2923846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919714C>A , CM000678.2:g.89919714C>A | GRCh38 |
| NC_000016.9:g.89986122C>A , CM000678.1:g.89986122C>A | GRCh37 |
| NC_000016.8:g.88513623C>A | NCBI36 |
| NG_012026.1:g.6836C>A | |
| NG_027810.1:g.2706C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.456C>A MANE Select | ENSP00000451605.1:p.Tyr152Ter | |
| ENST00000639847.1:c.456C>A | ENSP00000492011.1:p.Tyr152Ter | |
| ENST00000555147.1:c.456C>A | ENSP00000451605.1:p.Tyr152Ter | |
| ENST00000555427.1:c.456C>A | ENSP00000451760.1:p.Tyr152Ter | |
| ENST00000556922.1:c.456C>A | ENSP00000451560.1:p.Tyr152Ter | |
| NM_002386.3:c.456C>A | NP_002377.4:p.Tyr152Ter | |
| NM_002386.4:c.456C>A MANE Select | NP_002377.4:p.Tyr152Ter |