Linked Data
ClinVar Variation Id:
1969373
ClinVar RCV Id:
RCV002717160
dbSNP Id:
rs1344058673
gnomAD v3:
X-9765548-C-T
gnomAD v4:
X-9765548-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765548C>T , CM000685.2:g.9765548C>T | GRCh38 |
| NC_000023.10:g.9733588C>T , CM000685.1:g.9733588C>T | GRCh37 |
| NC_000023.9:g.9693588C>T | NCBI36 |
| NG_009074.1:g.5330G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467482.6:c.250+20G>A MANE Select | ENSP00000417161.1:n.250+20G>A | |
| ENST00000431126.1:c.-3+572G>A | ENSP00000406138.1:n.-3+572G>A | |
| ENST00000447366.5:c.-2-4722G>A | ENSP00000390546.2:n.-2-4722G>A | |
| ENST00000467482.5:c.250+20G>A | ENSP00000417161.1:n.250+20G>A | |
| NM_000273.2:c.250+20G>A | NP_000264.2:n.250+20G>A | |
| XM_005274541.2:c.250+20G>A | XP_005274598.1:n.250+20G>A | |
| XM_005274541.3:c.250+20G>A | XP_005274598.1:n.250+20G>A | |
| XM_024452387.1:c.-2-4722G>A | XP_024308155.1:n.-2-4722G>A | |
| XM_024452388.1:c.-2-4722G>A | XP_024308156.1:n.-2-4722G>A | |
| NM_000273.3:c.250+20G>A MANE Select | NP_000264.2:n.250+20G>A |