Linked Data
dbSNP Id:
rs17037621
gnomAD v2:
2-88905720-T-A
gnomAD v3:
2-88606202-T-A
gnomAD v4:
2-88606202-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88606202T>A , CM000664.2:g.88606202T>A | GRCh38 |
| NC_000002.11:g.88905720T>A , CM000664.1:g.88905720T>A | GRCh37 |
| NC_000002.10:g.88686835T>A | NCBI36 |
| NG_016424.1:g.26375A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682892.1:c.-16+7522A>T | ENSP00000507214.1:n.-16+7522A>T | |
| ENST00000303236.9:c.438+7522A>T MANE Select | ENSP00000307235.3:n.438+7522A>T | |
| ENST00000652099.1:c.436+7522A>T | ||
| ENST00000652423.1:c.*122+7522A>T | ENSP00000498948.1:n.*122+7522A>T | |
| ENST00000652736.1:n.314+7522A>T | ||
| ENST00000303236.7:c.438+7522A>T | ENSP00000307235.3:n.438+7522A>T | |
| ENST00000419748.5:c.-16+7522A>T | ENSP00000408325.1:n.-16+7522A>T | |
| NM_001313915.1:c.-16+7522A>T | NP_001300844.1:n.-16+7522A>T | |
| NM_004836.5:c.438+7522A>T | NP_004827.4:n.438+7522A>T | |
| NM_004836.6:c.438+7522A>T | NP_004827.4:n.438+7522A>T | |
| XR_939749.1:n.647+7522A>T | ||
| XM_017005376.2:c.-443+7522A>T | XP_016860865.1:n.-443+7522A>T | |
| NM_004836.7:c.438+7522A>T MANE Select | NP_004827.4:n.438+7522A>T | |
| NM_001313915.2:c.-16+7522A>T | NP_001300844.1:n.-16+7522A>T |