Linked Data
ClinVar Variation Id:
1571540
ClinVar RCV Id:
RCV002219094
dbSNP Id:
rs1445661658
gnomAD v2:
2-219678926-G-C
gnomAD v4:
2-218814203-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814203G>C , CM000664.2:g.218814203G>C | GRCh38 |
| NC_000002.11:g.219678926G>C , CM000664.1:g.219678926G>C | GRCh37 |
| NC_000002.10:g.219387170G>C | NCBI36 |
| NG_007959.1:g.37455G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1184+16G>C MANE Select | ENSP00000258415.4:n.1184+16G>C | |
| ENST00000258415.8:c.1184+16G>C | ENSP00000258415.4:n.1184+16G>C | |
| ENST00000494263.5:n.1634G>C | ||
| NM_000784.3:c.1184+16G>C | NP_000775.1:n.1184+16G>C | |
| XM_017003488.2:c.764+16G>C | XP_016858977.1:n.764+16G>C | |
| NM_000784.4:c.1184+16G>C MANE Select | NP_000775.1:n.1184+16G>C |