Linked Data
ClinVar Variation Id:
1269048
ClinVar RCV Id:
RCV001680153
dbSNP Id:
rs2179706
gnomAD v2:
20-56139871-C-T
gnomAD v3:
20-57564815-C-T
gnomAD v4:
20-57564815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57564815C>T , CM000682.2:g.57564815C>T | GRCh38 |
| NC_000020.10:g.56139871C>T , CM000682.1:g.56139871C>T | GRCh37 |
| NC_000020.9:g.55573277C>T | NCBI36 |
| NG_008205.1:g.8735C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319441.6:c.1318+202C>T MANE Select | ENSP00000319814.4:n.1318+202C>T | |
| ENST00000319441.5:c.1318+202C>T | ENSP00000319814.4:n.1318+202C>T | |
| ENST00000467047.1:n.3736C>T | ||
| ENST00000485958.1:n.442+202C>T | ||
| NM_002591.3:c.1318+202C>T | NP_002582.3:n.1318+202C>T | |
| XM_011528839.1:c.922+202C>T | XP_011527141.1:n.922+202C>T | |
| XM_024451888.1:c.922+202C>T | XP_024307656.1:n.922+202C>T | |
| NM_002591.4:c.1318+202C>T MANE Select | NP_002582.3:n.1318+202C>T |