Linked Data
ClinVar Variation Id:
209163
ClinVar RCV Id:
RCV000191096
dbSNP Id:
rs797045048
gnomAD v4:
17-50077122-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50077122G>A , CM000679.2:g.50077122G>A | GRCh38 |
| NC_000017.10:g.48154486G>A , CM000679.1:g.48154486G>A | GRCh37 |
| NC_000017.9:g.45509485G>A | NCBI36 |
| NG_029107.2:g.26147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320031.13:c.2070+1G>A MANE Select | ENSP00000315190.8:n.2070+1G>A | |
| ENST00000007722.11:c.2070+1G>A | ENSP00000007722.7:n.2070+1G>A | |
| ENST00000320031.12:c.2070+1G>A | ENSP00000315190.8:n.2070+1G>A | |
| ENST00000505306.5:n.2735G>A | ||
| ENST00000506827.1:c.205+1G>A | ||
| NM_002204.2:c.2070+1G>A | NP_002195.1:n.2070+1G>A | |
| NM_002204.3:c.2070+1G>A | NP_002195.1:n.2070+1G>A | |
| NM_005501.2:c.2070+1G>A | NP_005492.1:n.2070+1G>A | |
| XM_005257308.1:c.1665+1G>A | XP_005257365.1:n.1665+1G>A | |
| XM_005257308.2:c.1665+1G>A | XP_005257365.1:n.1665+1G>A | |
| XR_001752507.1:n.2445+1G>A | ||
| NM_002204.4:c.2070+1G>A MANE Select | NP_002195.1:n.2070+1G>A |