Linked Data
dbSNP Id:
rs1240166988
gnomAD v2:
15-78891638-C-A
gnomAD v3:
15-78599296-C-A
gnomAD v4:
15-78599296-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78599296C>A , CM000677.2:g.78599296C>A | GRCh38 |
| NC_000015.9:g.78891638C>A , CM000677.1:g.78891638C>A | GRCh37 |
| NC_000015.8:g.76678693C>A | NCBI36 |
| NG_016143.1:g.27000G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326828.6:c.1389+1957G>T MANE Select | ENSP00000315602.5:n.1389+1957G>T | |
| ENST00000326828.5:c.1389+1957G>T | ENSP00000315602.5:n.1389+1957G>T | |
| ENST00000348639.7:c.1389+1957G>T | ENSP00000267951.4:n.1389+1957G>T | |
| ENST00000559658.5:c.1389+1957G>T | ENSP00000452896.1:n.1389+1957G>T | |
| NM_000743.4:c.1389+1957G>T | NP_000734.2:n.1389+1957G>T | |
| NM_001166694.1:c.1389+1957G>T | NP_001160166.1:n.1389+1957G>T | |
| NR_046313.1:n.1890+1957G>T | ||
| XM_006720382.1:c.1188+1957G>T | XP_006720445.1:n.1188+1957G>T | |
| XM_011521173.1:c.1308+1957G>T | XP_011519475.1:n.1308+1957G>T | |
| XM_006720382.3:c.1188+1957G>T | XP_006720445.1:n.1188+1957G>T | |
| NM_000743.5:c.1389+1957G>T MANE Select | NP_000734.2:n.1389+1957G>T | |
| NM_001166694.2:c.1389+1957G>T | NP_001160166.1:n.1389+1957G>T | |
| NR_046313.2:n.1591+1957G>T |