Linked Data
ClinVar Variation Id:
439343
ClinVar RCV Id:
RCV000508422
dbSNP Id:
rs1220968200
gnomAD v2:
12-6127711-C-G
gnomAD v4:
12-6018545-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018545C>G , CM000674.2:g.6018545C>G | GRCh38 |
| NC_000012.11:g.6127711C>G , CM000674.1:g.6127711C>G | GRCh37 |
| NC_000012.10:g.5997972C>G | NCBI36 |
| NG_009072.1:g.111126G>C | |
| NG_009072.2:g.111126G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.4873G>C MANE Select | ENSP00000261405.5:p.Val1625Leu | |
| ENST00000261405.9:c.4873G>C | ENSP00000261405.5:p.Val1625Leu | |
| ENST00000538635.5:n.421-24611G>C | ||
| NM_000552.3:c.4873G>C | NP_000543.2:p.Val1625Leu | |
| NM_000552.4:c.4873G>C | NP_000543.2:p.Val1625Leu | |
| NM_000552.5:c.4873G>C MANE Select | NP_000543.3:p.Val1625Leu |