Linked Data
ClinVar Variation Id:
9147
dbSNP Id:
rs113994192
ExAC:
15:73004583 A / G
gnomAD v2:
15-73004583-A-G
gnomAD v4:
15-72712242-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72712242A>G , CM000677.2:g.72712242A>G | GRCh38 |
| NC_000015.9:g.73004583A>G , CM000677.1:g.73004583A>G | GRCh37 |
| NC_000015.8:g.70791636A>G | NCBI36 |
| NG_009416.2:g.31058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.157-2A>G MANE Select | ENSP00000268057.4:n.157-2A>G | |
| ENST00000268057.8:c.157-2A>G | ENSP00000268057.4:n.157-2A>G | |
| ENST00000395205.6:c.-365-2A>G | ENSP00000378631.3:n.-365-2A>G | |
| ENST00000561914.5:c.157-2A>G | ENSP00000457795.1:n.157-2A>G | |
| ENST00000562084.5:c.*236-2A>G | ENSP00000454718.1:n.*236-2A>G | |
| ENST00000563600.5:c.*107-2A>G | ENSP00000457753.1:n.*107-2A>G | |
| ENST00000564239.1:n.224-2A>G | ||
| ENST00000565160.5:c.157-2A>G | ENSP00000455412.1:n.157-2A>G | |
| ENST00000566400.5:c.*42-2A>G | ENSP00000456759.1:n.*42-2A>G | |
| ENST00000566829.1:c.175-2A>G | ENSP00000455958.1:n.175-2A>G | |
| ENST00000566938.5:c.*42-2A>G | ENSP00000456463.1:n.*42-2A>G | |
| ENST00000567279.5:c.*11-2A>G | ENSP00000456664.1:n.*11-2A>G | |
| ENST00000569338.5:c.148-2A>G | ENSP00000456758.1:n.148-2A>G | |
| ENST00000569440.5:c.*101-2A>G | ENSP00000457958.1:n.*101-2A>G | |
| NM_001252678.1:c.-365-2A>G | NP_001239607.1:n.-365-2A>G | |
| NM_033028.4:c.157-2A>G | NP_149017.2:n.157-2A>G | |
| NR_045565.1:n.264-2A>G | ||
| NR_045566.1:n.519-2A>G | ||
| XM_006720625.2:c.157-2A>G | XP_006720688.1:n.157-2A>G | |
| XM_011521848.1:c.-365-2A>G | XP_011520150.1:n.-365-2A>G | |
| XM_011521849.1:c.-248-2A>G | XP_011520151.1:n.-248-2A>G | |
| XM_011521851.1:c.-457-2A>G | XP_011520153.1:n.-457-2A>G | |
| NM_001320665.1:c.157-2A>G | NP_001307594.1:n.157-2A>G | |
| XM_017022450.1:c.181-2A>G | XP_016877939.1:n.181-2A>G | |
| XM_017022452.1:c.-248-2A>G | XP_016877941.1:n.-248-2A>G | |
| XM_017022453.1:c.-253-2A>G | XP_016877942.1:n.-253-2A>G | |
| XM_017022454.1:c.-253-2A>G | XP_016877943.1:n.-253-2A>G | |
| NM_033028.5:c.157-2A>G MANE Select | NP_149017.2:n.157-2A>G | |
| NM_001252678.2:c.-365-2A>G | NP_001239607.1:n.-365-2A>G | |
| NM_001320665.2:c.157-2A>G | NP_001307594.1:n.157-2A>G | |
| NR_045565.2:n.236-2A>G | ||
| NR_045566.2:n.491-2A>G |