Linked Data
ClinVar Variation Id:
537718
ClinVar RCV Id:
RCV000646726
dbSNP Id:
rs17124941
ExAC:
10:89472962 T / C
gnomAD v2:
10-89472962-T-C
gnomAD v3:
10-87713205-T-C
gnomAD v4:
10-87713205-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713205T>C , CM000672.2:g.87713205T>C | GRCh38 |
| NC_000010.10:g.89472962T>C , CM000672.1:g.89472962T>C | GRCh37 |
| NC_000010.9:g.89462942T>C | NCBI36 |
| NG_012150.1:g.58487T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.276T>C MANE Select | ENSP00000406157.1:p.Ser92= | |
| ENST00000361175.8:c.276T>C | ENSP00000354436.4:p.Ser92= | |
| ENST00000456849.1:c.276T>C | ENSP00000406157.1:p.Ser92= | |
| ENST00000482258.1:n.319T>C | ||
| NM_001015880.1:c.276T>C | NP_001015880.1:p.Ser92= | |
| NM_004670.3:c.276T>C | NP_004661.2:p.Ser92= | |
| NM_001015880.2:c.276T>C MANE Select | NP_001015880.1:p.Ser92= | |
| NM_004670.4:c.276T>C | NP_004661.2:p.Ser92= |