Linked Data
ClinVar Variation Id:
1571487
ClinVar RCV Id:
RCV002219049
dbSNP Id:
rs776794344
ExAC:
2:219678770 G / A
gnomAD v2:
2-219678770-G-A
gnomAD v4:
2-218814047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814047G>A , CM000664.2:g.218814047G>A | GRCh38 |
| NC_000002.11:g.219678770G>A , CM000664.1:g.219678770G>A | GRCh37 |
| NC_000002.10:g.219387014G>A | NCBI36 |
| NG_007959.1:g.37299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1044G>A MANE Select | ENSP00000258415.4:p.Leu348= | |
| ENST00000258415.8:c.1044G>A | ENSP00000258415.4:p.Leu348= | |
| ENST00000445971.1:c.*505G>A | ENSP00000404945.1:n.*505G>A | |
| ENST00000466602.1:n.1166G>A | ||
| ENST00000494263.5:n.1478G>A | ||
| NM_000784.3:c.1044G>A | NP_000775.1:p.Leu348= | |
| XM_017003488.2:c.624G>A | XP_016858977.1:p.Leu208= | |
| NM_000784.4:c.1044G>A MANE Select | NP_000775.1:p.Leu348= |