Linked Data
ClinVar Variation Id:
324749
ClinVar RCV Id:
RCV000393371
dbSNP Id:
rs886053300
gnomAD v4:
17-6470253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6470253G>A , CM000679.2:g.6470253G>A | GRCh38 |
| NC_000017.10:g.6373573G>A , CM000679.1:g.6373573G>A | GRCh37 |
| NC_000017.9:g.6314297G>A | NCBI36 |
| NG_016020.1:g.91305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262483.13:c.1773+7C>T MANE Select | ENSP00000262483.8:n.1773+7C>T | |
| ENST00000262483.12:c.1773+7C>T | ENSP00000262483.8:n.1773+7C>T | |
| ENST00000421306.7:c.1665+7C>T | ENSP00000407882.3:n.1665+7C>T | |
| ENST00000572795.1:n.4279+7C>T | ||
| ENST00000576664.5:n.522+7C>T | ||
| NM_001165966.1:c.1665+7C>T | NP_001159438.1:n.1665+7C>T | |
| NM_031220.3:c.1773+7C>T | NP_112497.2:n.1773+7C>T | |
| XM_011524014.1:c.1773+7C>T | XP_011522316.1:n.1773+7C>T | |
| XM_011524015.1:c.1773+7C>T | XP_011522317.1:n.1773+7C>T | |
| XM_011524016.1:c.1773+7C>T | XP_011522318.1:n.1773+7C>T | |
| XM_011524015.3:c.1773+7C>T | XP_011522317.1:n.1773+7C>T | |
| XM_011524016.3:c.1773+7C>T | XP_011522318.1:n.1773+7C>T | |
| NM_031220.4:c.1773+7C>T MANE Select | NP_112497.2:n.1773+7C>T | |
| NM_001165966.2:c.1665+7C>T | NP_001159438.1:n.1665+7C>T |