Linked Data
ClinVar Variation Id:
213131
ClinVar RCV Id:
RCV000197839
dbSNP Id:
rs863223499
gnomAD v4:
2-189034132-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034132C>G , CM000664.2:g.189034132C>G | GRCh38 |
| NC_000002.11:g.189898858C>G , CM000664.1:g.189898858C>G | GRCh37 |
| NC_000002.10:g.189607103C>G | NCBI36 |
| NG_011799.1:g.150748G>C | |
| NG_011799.2:g.150748G>C | |
| NG_011799.3:g.196170G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4438G>C MANE Select | ENSP00000364000.3:p.Val1480Leu | |
| ENST00000374866.7:c.4438G>C | ENSP00000364000.3:p.Val1480Leu | |
| ENST00000618828.1:c.3277G>C | ENSP00000482184.1:p.Val1093Leu | |
| NM_000393.3:c.4438G>C | NP_000384.2:p.Val1480Leu | |
| XM_011510573.1:c.4300G>C | XP_011508875.1:p.Val1434Leu | |
| NM_000393.4:c.4438G>C | NP_000384.2:p.Val1480Leu | |
| XM_011510573.3:c.4300G>C | XP_011508875.1:p.Val1434Leu | |
| NM_000393.5:c.4438G>C MANE Select | NP_000384.2:p.Val1480Leu |