Linked Data
ClinVar Variation Id:
1060569
ClinVar RCV Id:
RCV001370018
dbSNP Id:
rs761209037
gnomAD v2:
17-68171703-A-C
gnomAD v4:
17-70175562-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175562A>C , CM000679.2:g.70175562A>C | GRCh38 |
| NC_000017.10:g.68171703A>C , CM000679.1:g.68171703A>C | GRCh37 |
| NC_000017.9:g.65683298A>C | NCBI36 |
| NG_008798.1:g.11028A>C , LRG_328:g.11028A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.523A>C MANE Select | ENSP00000243457.2:p.Ile175Leu | |
| ENST00000243457.3:c.523A>C | ENSP00000243457.2:p.Ile175Leu | |
| ENST00000535240.1:c.523A>C | ENSP00000441848.1:p.Ile175Leu | |
| NM_000891.2:c.523A>C , LRG_328t1:c.523A>C | NP_000882.1:p.Ile175Leu | |
| XM_011524779.1:c.523A>C | XP_011523081.1:p.Ile175Leu | |
| NM_000891.3:c.523A>C MANE Select | NP_000882.1:p.Ile175Leu |