Linked Data
ClinVar Variation Id:
500465
dbSNP Id:
rs1245201394
gnomAD v2:
2-219678901-A-C
gnomAD v3:
2-218814178-A-C
gnomAD v4:
2-218814178-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814178A>C , CM000664.2:g.218814178A>C | GRCh38 |
| NC_000002.11:g.219678901A>C , CM000664.1:g.219678901A>C | GRCh37 |
| NC_000002.10:g.219387145A>C | NCBI36 |
| NG_007959.1:g.37430A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1175A>C MANE Select | ENSP00000258415.4:p.Glu392Ala | |
| ENST00000258415.8:c.1175A>C | ENSP00000258415.4:p.Glu392Ala | |
| ENST00000494263.5:n.1609A>C | ||
| NM_000784.3:c.1175A>C | NP_000775.1:p.Glu392Ala | |
| XM_017003488.2:c.755A>C | XP_016858977.1:p.Glu252Ala | |
| NM_000784.4:c.1175A>C MANE Select | NP_000775.1:p.Glu392Ala |