Linked Data
ClinVar Variation Id:
65886
ClinVar RCV Id:
RCV000056131
dbSNP Id:
rs587778804
gnomAD v4:
2-218812551-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812551G>T , CM000664.2:g.218812551G>T | GRCh38 |
| NC_000002.11:g.219677274G>T , CM000664.1:g.219677274G>T | GRCh37 |
| NC_000002.10:g.219385518G>T | NCBI36 |
| NG_007959.1:g.35803G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.647-1G>T MANE Select | ENSP00000258415.4:n.647-1G>T | |
| ENST00000258415.8:c.647-1G>T | ENSP00000258415.4:n.647-1G>T | |
| ENST00000411688.1:c.365-1G>T | ENSP00000392671.1:n.365-1G>T | |
| ENST00000445971.1:c.*108-1G>T | ENSP00000404945.1:n.*108-1G>T | |
| ENST00000466602.1:n.594G>T | ||
| ENST00000494263.5:n.1081-1G>T | ||
| NM_000784.3:c.647-1G>T | NP_000775.1:n.647-1G>T | |
| XM_017003488.2:c.227-1G>T | XP_016858977.1:n.227-1G>T | |
| NM_000784.4:c.647-1G>T MANE Select | NP_000775.1:n.647-1G>T |