Linked Data
ClinVar Variation Id:
1419084
ClinVar RCV Id:
RCV001954562
dbSNP Id:
rs2132254318
gnomAD v4:
10-47350315-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350315G>C , CM000672.2:g.47350315G>C | GRCh38 |
| NC_000010.10:g.48389047C>G , CM000672.1:g.48389047C>G | GRCh37 |
| NC_000010.9:g.48009053C>G | NCBI36 |
| NG_029718.1:g.6945G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1831G>C MANE Select | ENSP00000463151.1:p.Val611Leu | |
| ENST00000584701.1:c.1831G>C | ENSP00000463151.1:p.Val611Leu | |
| NM_002900.2:c.1831G>C | NP_002891.1:p.Val611Leu | |
| NM_002900.3:c.1831G>C MANE Select | NP_002891.1:p.Val611Leu |