Linked Data
ClinVar Variation Id:
444117
ClinVar RCV Id:
RCV000626353
dbSNP Id:
rs59339622
gnomAD v2:
20-43882833-G-A
gnomAD v3:
20-45254192-G-A
gnomAD v4:
20-45254192-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45254192G>A , CM000682.2:g.45254192G>A | GRCh38 |
| NC_000020.10:g.43882833G>A , CM000682.1:g.43882833G>A | GRCh37 |
| NC_000020.9:g.43316247G>A | NCBI36 |
| NG_028137.1:g.5374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338380.2:c.85+267C>T MANE Select | ENSP00000342082.2:n.85+267C>T | |
| NM_003064.3:c.85+267C>T | NP_003055.1:n.85+267C>T | |
| XR_936762.1:n.483+7350G>A | ||
| XR_936763.1:n.344+22759G>A | ||
| XR_936762.2:n.503+7350G>A | ||
| XR_936763.2:n.361+22759G>A | ||
| NM_003064.4:c.85+267C>T MANE Select | NP_003055.1:n.85+267C>T |