Linked Data
ClinVar Variation Id:
2338079
ClinVar RCV Id:
RCV002950261
dbSNP Id:
rs1424771508
gnomAD v3:
19-18785072-C-G
gnomAD v4:
19-18785072-C-G
COSMIC:
COSM3100448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785072C>G , CM000681.2:g.18785072C>G | GRCh38 |
| NC_000019.9:g.18895882C>G , CM000681.1:g.18895882C>G | GRCh37 |
| NC_000019.8:g.18756882C>G | NCBI36 |
| NG_007070.1:g.11233G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1738G>C MANE Select | ENSP00000222271.2:p.Val580Leu | |
| ENST00000222271.6:c.1738G>C | ENSP00000222271.2:p.Val580Leu | |
| ENST00000425807.1:c.1579G>C | ENSP00000403792.1:p.Val527Leu | |
| ENST00000542601.6:c.1639G>C | ENSP00000439156.2:p.Val547Leu | |
| NM_000095.2:c.1738G>C | NP_000086.2:p.Val580Leu | |
| NM_000095.3:c.1738G>C MANE Select | NP_000086.2:p.Val580Leu |