Linked Data
ClinVar Variation Id:
1481460
ClinVar RCV Id:
RCV002022304
dbSNP Id:
rs1658285861
gnomAD v3:
1-224183424-G-A
gnomAD v4:
1-224183424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.224183424G>A , CM000663.2:g.224183424G>A | GRCh38 |
| NC_000001.10:g.224371126G>A , CM000663.1:g.224371126G>A | GRCh37 |
| NC_000001.9:g.222437749G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323699.9:c.82+6G>A MANE Select | ENSP00000316476.4:n.82+6G>A | |
| ENST00000323699.8:c.82+6G>A | ENSP00000316476.4:n.82+6G>A | |
| ENST00000391877.3:c.82+6G>A | ENSP00000375749.3:n.82+6G>A | |
| ENST00000415210.5:c.20-6153G>A | ENSP00000400545.1:n.20-6153G>A | |
| NM_003676.3:c.82+6G>A | NP_003667.1:n.82+6G>A | |
| XM_011544317.1:c.82+6G>A | XP_011542619.1:n.82+6G>A | |
| NM_001321541.1:c.82+6G>A | NP_001308470.1:n.82+6G>A | |
| NM_003676.4:c.82+6G>A MANE Select | NP_003667.1:n.82+6G>A | |
| NM_001321541.2:c.82+6G>A | NP_001308470.1:n.82+6G>A |