Linked Data
ClinVar Variation Id:
4264
ClinVar RCV Id:
RCV000004485
dbSNP Id:
rs72551313
gnomAD v4:
2-218809755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218809755G>A , CM000664.2:g.218809755G>A | GRCh38 |
| NC_000002.11:g.219674478G>A , CM000664.1:g.219674478G>A | GRCh37 |
| NC_000002.10:g.219382722G>A | NCBI36 |
| NG_007959.1:g.33007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.434G>A MANE Select | ENSP00000258415.4:p.Gly145Glu | |
| ENST00000258415.8:c.434G>A | ENSP00000258415.4:p.Gly145Glu | |
| ENST00000411688.1:c.152G>A | ENSP00000392671.1:p.Gly51Glu | |
| ENST00000445971.1:c.256-2467G>A | ENSP00000404945.1:n.256-2467G>A | |
| ENST00000466602.1:n.265-2467G>A | ||
| ENST00000494263.5:n.868G>A | ||
| NM_000784.3:c.434G>A | NP_000775.1:p.Gly145Glu | |
| XM_017003488.2:c.27-2467G>A | XP_016858977.1:n.27-2467G>A | |
| NM_000784.4:c.434G>A MANE Select | NP_000775.1:p.Gly145Glu |