Linked Data
ClinVar Variation Id:
2983065
dbSNP Id:
rs1373660567
gnomAD v2:
20-23028605-C-G
gnomAD v4:
20-23047968-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047968C>G , CM000682.2:g.23047968C>G | GRCh38 |
| NC_000020.10:g.23028605C>G , CM000682.1:g.23028605C>G | GRCh37 |
| NC_000020.9:g.22976605C>G | NCBI36 |
| NG_012027.1:g.6697G>C , LRG_168:g.6697G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1537G>C MANE Select | ENSP00000366307.2:p.Val513Leu | |
| ENST00000377103.2:c.1537G>C | ENSP00000366307.2:p.Val513Leu | |
| NM_000361.2:c.1537G>C , LRG_168t1:c.1537G>C | NP_000352.1:p.Val513Leu | |
| NM_000361.3:c.1537G>C MANE Select | NP_000352.1:p.Val513Leu |