Linked Data
ClinVar Variation Id:
1907467
ClinVar RCV Id:
RCV002596397
dbSNP Id:
rs558741410
ExAC:
9:132581214 G / A
gnomAD v2:
9-132581214-G-A
gnomAD v3:
9-129818935-G-A
gnomAD v4:
9-129818935-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818935G>A , CM000671.2:g.129818935G>A | GRCh38 |
| NC_000009.11:g.132581214G>A , CM000671.1:g.132581214G>A | GRCh37 |
| NC_000009.10:g.131621035G>A | NCBI36 |
| NG_008049.1:g.10228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.445-15C>T MANE Select | ENSP00000345719.4:n.445-15C>T | |
| ENST00000651202.1:c.541-15C>T | ENSP00000498222.1:n.541-15C>T | |
| ENST00000351698.4:c.445-15C>T | ENSP00000345719.4:n.445-15C>T | |
| ENST00000473604.2:n.555-15C>T | ||
| NM_000113.2:c.445-15C>T | NP_000104.1:n.445-15C>T | |
| XR_929731.1:n.605-15C>T | ||
| XR_929731.3:n.473-15C>T | ||
| NM_000113.3:c.445-15C>T MANE Select | NP_000104.1:n.445-15C>T |