Linked Data
dbSNP Id:
rs2289743
gnomAD v2:
15-41860698-C-G
gnomAD v3:
15-41568500-C-G
gnomAD v4:
15-41568500-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41568500C>G , CM000677.2:g.41568500C>G | GRCh38 |
| NC_000015.9:g.41860698C>G , CM000677.1:g.41860698C>G | GRCh37 |
| NC_000015.8:g.39647990C>G | NCBI36 |
| NG_033013.1:g.14479C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263798.8:c.1107+138C>G MANE Select | ENSP00000263798.3:n.1107+138C>G | |
| ENST00000263798.7:c.1107+138C>G | ENSP00000263798.3:n.1107+138C>G | |
| ENST00000559066.5:c.972+138C>G | ENSP00000454050.1:n.972+138C>G | |
| ENST00000559815.1:c.305+138C>G | ||
| NM_006293.3:c.1107+138C>G | NP_006284.2:n.1107+138C>G | |
| XM_011521992.1:c.1050+138C>G | XP_011520294.1:n.1050+138C>G | |
| XM_011521993.1:c.972+138C>G | XP_011520295.1:n.972+138C>G | |
| NM_001330264.1:c.972+138C>G | NP_001317193.1:n.972+138C>G | |
| XM_017022543.2:c.1107+138C>G | XP_016878032.1:n.1107+138C>G | |
| NM_006293.4:c.1107+138C>G MANE Select | NP_006284.2:n.1107+138C>G | |
| NM_001330264.2:c.972+138C>G | NP_001317193.1:n.972+138C>G |