Linked Data
dbSNP Id:
rs12441227
gnomAD v2:
15-71696886-A-G
gnomAD v3:
15-71404547-A-G
gnomAD v4:
15-71404547-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71404547A>G , CM000677.2:g.71404547A>G | GRCh38 |
| NC_000015.9:g.71696886A>G , CM000677.1:g.71696886A>G | GRCh37 |
| NC_000015.8:g.69483940A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261862.8:c.1016-7140A>G MANE Select | ENSP00000261862.8:n.1016-7140A>G | |
| ENST00000355327.7:c.1016-7140A>G | ENSP00000347484.3:n.1016-7140A>G | |
| NM_024817.2:c.1016-7140A>G | NP_079093.2:n.1016-7140A>G | |
| XM_006720692.2:c.1016-7140A>G | XP_006720755.1:n.1016-7140A>G | |
| XM_011522044.1:c.8-7140A>G | XP_011520346.1:n.8-7140A>G | |
| XM_006720692.3:c.1016-7140A>G | XP_006720755.1:n.1016-7140A>G | |
| XM_011522044.2:c.8-7140A>G | XP_011520346.1:n.8-7140A>G | |
| XM_017022582.2:c.270+147832A>G | XP_016878071.1:n.270+147832A>G | |
| XM_017022583.1:c.38-7140A>G | XP_016878072.1:n.38-7140A>G | |
| XM_017022585.1:c.120+147832A>G | XP_016878074.1:n.120+147832A>G | |
| XM_017022586.1:c.-38-7140A>G | XP_016878075.1:n.-38-7140A>G | |
| NM_001394532.1:c.1016-7140A>G | NP_001381461.1:n.1016-7140A>G | |
| NM_024817.3:c.1016-7140A>G MANE Select | NP_079093.2:n.1016-7140A>G |