Linked Data
ClinVar Variation Id:
1490855
ClinVar RCV Id:
RCV001986093
dbSNP Id:
rs1395925746
gnomAD v3:
10-87727467-G-C
gnomAD v4:
10-87727467-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727467G>C , CM000672.2:g.87727467G>C | GRCh38 |
| NC_000010.10:g.89487224G>C , CM000672.1:g.89487224G>C | GRCh37 |
| NC_000010.9:g.89477204G>C | NCBI36 |
| NG_012150.1:g.72749G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1064G>C MANE Select | ENSP00000406157.1:p.Cys355Ser | |
| ENST00000361175.8:c.1049G>C | ENSP00000354436.4:p.Cys350Ser | |
| ENST00000456849.1:c.1064G>C | ENSP00000406157.1:p.Cys355Ser | |
| NM_001015880.1:c.1064G>C | NP_001015880.1:p.Cys355Ser | |
| NM_004670.3:c.1049G>C | NP_004661.2:p.Cys350Ser | |
| NM_001015880.2:c.1064G>C MANE Select | NP_001015880.1:p.Cys355Ser | |
| NM_004670.4:c.1049G>C | NP_004661.2:p.Cys350Ser |