Linked Data
ClinVar Variation Id:
1169773
ClinVar RCV Id:
RCV001521515
dbSNP Id:
rs564161331
ExAC:
16:89986067 T / C
gnomAD v2:
16-89986067-T-C
gnomAD v3:
16-89919659-T-C
gnomAD v4:
16-89919659-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919659T>C , CM000678.2:g.89919659T>C | GRCh38 |
| NC_000016.9:g.89986067T>C , CM000678.1:g.89986067T>C | GRCh37 |
| NC_000016.8:g.88513568T>C | NCBI36 |
| NG_012026.1:g.6781T>C | |
| NG_027810.1:g.2651T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.401T>C MANE Select | ENSP00000451605.1:p.Phe134Ser | |
| ENST00000639847.1:c.401T>C | ENSP00000492011.1:p.Phe134Ser | |
| ENST00000555147.1:c.401T>C | ENSP00000451605.1:p.Phe134Ser | |
| ENST00000555427.1:c.401T>C | ENSP00000451760.1:p.Phe134Ser | |
| ENST00000556922.1:c.401T>C | ENSP00000451560.1:p.Phe134Ser | |
| NM_002386.3:c.401T>C | NP_002377.4:p.Phe134Ser | |
| NM_002386.4:c.401T>C MANE Select | NP_002377.4:p.Phe134Ser |