Linked Data
dbSNP Id:
rs4778241
gnomAD v2:
15-28338713-A-C
gnomAD v3:
15-28093567-A-C
gnomAD v4:
15-28093567-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28093567A>C , CM000677.2:g.28093567A>C | GRCh38 |
| NC_000015.9:g.28338713A>C , CM000677.1:g.28338713A>C | GRCh37 |
| NC_000015.8:g.26012308A>C | NCBI36 |
| NG_009846.1:g.10746T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354638.8:c.-22+5657T>G MANE Select | ENSP00000346659.3:n.-22+5657T>G | |
| ENST00000353809.9:c.-22+5657T>G | ENSP00000261276.8:n.-22+5657T>G | |
| ENST00000354638.7:c.-22+5657T>G | ENSP00000346659.3:n.-22+5657T>G | |
| ENST00000431101.1:c.-22+5544T>G | ENSP00000415431.1:n.-22+5544T>G | |
| ENST00000445578.5:c.-22+5657T>G | ENSP00000414425.1:n.-22+5657T>G | |
| NM_000275.2:c.-22+5657T>G | NP_000266.2:n.-22+5657T>G | |
| NM_001300984.1:c.-22+5657T>G | NP_001287913.1:n.-22+5657T>G | |
| XM_011521640.1:c.-22+5657T>G | XP_011519942.1:n.-22+5657T>G | |
| XM_011521640.2:c.-22+5657T>G | XP_011519942.1:n.-22+5657T>G | |
| NM_000275.3:c.-22+5657T>G MANE Select | NP_000266.2:n.-22+5657T>G | |
| NM_001300984.2:c.-22+5657T>G | NP_001287913.1:n.-22+5657T>G |