Linked Data
ClinVar Variation Id:
2064710
ClinVar RCV Id:
RCV002928880
dbSNP Id:
rs894255140
gnomAD v2:
9-130700082-C-A
gnomAD v4:
9-127937803-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127937803C>A , CM000671.2:g.127937803C>A | GRCh38 |
| NC_000009.11:g.130700082C>A , CM000671.1:g.130700082C>A | GRCh37 |
| NC_000009.10:g.129739903C>A | NCBI36 |
| NG_032927.1:g.5682G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.3+15G>T MANE Select | ENSP00000322181.8:n.3+15G>T | |
| ENST00000314392.12:c.3+15G>T | ENSP00000322181.8:n.3+15G>T | |
| ENST00000373110.4:c.3+15G>T | ENSP00000362202.4:n.3+15G>T | |
| ENST00000470181.1:n.16G>T | ||
| ENST00000495270.1:n.9+15G>T | ||
| NM_003863.3:c.3+15G>T | NP_003854.1:n.3+15G>T | |
| NM_003863.4:c.3+15G>T MANE Select | NP_003854.1:n.3+15G>T | |
| NM_001378436.1:c.3+15G>T | NP_001365365.1:n.3+15G>T | |
| NM_001378437.1:c.3+15G>T | NP_001365366.1:n.3+15G>T | |
| NR_165631.1:n.37+15G>T | ||
| NR_165632.1:n.37+15G>T |