Linked Data
dbSNP Id:
rs12899618
gnomAD v2:
15-71645120-G-A
gnomAD v3:
15-71352781-G-A
gnomAD v4:
15-71352781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71352781G>A , CM000677.2:g.71352781G>A | GRCh38 |
| NC_000015.9:g.71645120G>A , CM000677.1:g.71645120G>A | GRCh37 |
| NC_000015.8:g.69432174G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261862.8:c.1016-58906G>A MANE Select | ENSP00000261862.8:n.1016-58906G>A | |
| ENST00000355327.7:c.1016-58906G>A | ENSP00000347484.3:n.1016-58906G>A | |
| NM_024817.2:c.1016-58906G>A | NP_079093.2:n.1016-58906G>A | |
| XM_006720692.2:c.1016-58906G>A | XP_006720755.1:n.1016-58906G>A | |
| XM_011522044.1:c.7+20409G>A | XP_011520346.1:n.7+20409G>A | |
| XM_006720692.3:c.1016-58906G>A | XP_006720755.1:n.1016-58906G>A | |
| XM_011522044.2:c.7+20409G>A | XP_011520346.1:n.7+20409G>A | |
| XM_017022582.2:c.270+96066G>A | XP_016878071.1:n.270+96066G>A | |
| XM_017022583.1:c.38-58906G>A | XP_016878072.1:n.38-58906G>A | |
| XM_017022585.1:c.120+96066G>A | XP_016878074.1:n.120+96066G>A | |
| XM_017022586.1:c.-39+4291G>A | XP_016878075.1:n.-39+4291G>A | |
| NM_001394532.1:c.1016-58906G>A | NP_001381461.1:n.1016-58906G>A | |
| NM_024817.3:c.1016-58906G>A MANE Select | NP_079093.2:n.1016-58906G>A |