Linked Data
dbSNP Id:
rs867697073
gnomAD v2:
14-91779294-T-C
gnomAD v3:
14-91312950-T-C
gnomAD v4:
14-91312950-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91312950T>C , CM000676.2:g.91312950T>C | GRCh38 |
| NC_000014.8:g.91779294T>C , CM000676.1:g.91779294T>C | GRCh37 |
| NC_000014.7:g.90849047T>C | NCBI36 |
| NG_033118.1:g.109895A>G | |
| NG_033118.2:g.109895A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.2736+130A>G MANE Select | ENSP00000374507.6:n.2736+130A>G | |
| ENST00000389857.10:c.2736+130A>G | ENSP00000374507.6:n.2736+130A>G | |
| NM_001080414.3:c.2736+130A>G | NP_001073883.2:n.2736+130A>G | |
| XM_005267691.3:c.2736+130A>G | XP_005267748.1:n.2736+130A>G | |
| XM_011536796.1:c.2628+130A>G | XP_011535098.1:n.2628+130A>G | |
| XR_429316.2:n.2864+130A>G | ||
| XR_943459.1:n.2864+130A>G | ||
| XM_005267691.5:c.2736+130A>G | XP_005267748.1:n.2736+130A>G | |
| XM_011536796.2:c.2628+130A>G | XP_011535098.1:n.2628+130A>G | |
| XM_017021335.2:c.2736+130A>G | XP_016876824.1:n.2736+130A>G | |
| XM_017021336.1:c.-56+130A>G | XP_016876825.1:n.-56+130A>G | |
| XM_017021337.2:c.2736+130A>G | XP_016876826.1:n.2736+130A>G | |
| XR_429316.4:n.2862+130A>G | ||
| NM_001080414.4:c.2736+130A>G MANE Select | NP_001073883.2:n.2736+130A>G |