Linked Data
dbSNP Id:
rs746104229
ExAC:
10:124268139 G / A
gnomAD v2:
10-124268139-G-A
gnomAD v3:
10-122508623-G-A
gnomAD v4:
10-122508623-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508623G>A , CM000672.2:g.122508623G>A | GRCh38 |
| NC_000010.10:g.124268139G>A , CM000672.1:g.124268139G>A | GRCh37 |
| NC_000010.9:g.124258129G>A | NCBI36 |
| NG_011554.1:g.52099G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1006-33G>A MANE Select | ENSP00000357980.3:n.1006-33G>A | |
| ENST00000648167.1:c.688-33G>A | ENSP00000498033.1:n.688-33G>A | |
| ENST00000368984.7:c.1006-33G>A | ENSP00000357980.3:n.1006-33G>A | |
| ENST00000420892.1:c.229-33G>A | ENSP00000412676.1:n.229-33G>A | |
| NM_002775.4:c.1006-33G>A | NP_002766.1:n.1006-33G>A | |
| NM_002775.5:c.1006-33G>A MANE Select | NP_002766.1:n.1006-33G>A |