Linked Data
ClinVar Variation Id:
1952123
ClinVar RCV Id:
RCV002676745
dbSNP Id:
rs781920668
ExAC:
10:48388777 C / G
gnomAD v2:
10-48388777-C-G
gnomAD v3:
10-47350585-G-C
gnomAD v4:
10-47350585-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350585G>C , CM000672.2:g.47350585G>C | GRCh38 |
| NC_000010.10:g.48388777C>G , CM000672.1:g.48388777C>G | GRCh37 |
| NC_000010.9:g.48008783C>G | NCBI36 |
| NG_029718.1:g.7215G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2101G>C MANE Select | ENSP00000463151.1:p.Val701Leu | |
| ENST00000584701.1:c.2101G>C | ENSP00000463151.1:p.Val701Leu | |
| NM_002900.2:c.2101G>C | NP_002891.1:p.Val701Leu | |
| NM_002900.3:c.2101G>C MANE Select | NP_002891.1:p.Val701Leu |