Linked Data
dbSNP Id:
rs10773046
gnomAD v2:
12-124375210-A-G
gnomAD v3:
12-123890663-A-G
gnomAD v4:
12-123890663-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123890663A>G , CM000674.2:g.123890663A>G | GRCh38 |
| NC_000012.11:g.124375210A>G , CM000674.1:g.124375210A>G | GRCh37 |
| NC_000012.10:g.122941163A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409039.8:c.8825-2570A>G | ENSP00000386770.4:n.8825-2570A>G | |
| ENST00000638045.1:c.8642-2570A>G | ENSP00000489675.1:n.8642-2570A>G | |
| ENST00000673944.1:c.8996-2570A>G MANE Select | ENSP00000501095.1:n.8996-2570A>G | |
| ENST00000409039.7:c.8642-2570A>G | ENSP00000386770.3:n.8642-2570A>G | |
| NM_207437.3:c.8642-2570A>G | NP_997320.2:n.8642-2570A>G | |
| XM_005253555.2:c.8996-2570A>G | XP_005253612.1:n.8996-2570A>G | |
| XM_011538013.1:c.8987-2570A>G | XP_011536315.1:n.8987-2570A>G | |
| XM_011538014.1:c.8837-2570A>G | XP_011536316.1:n.8837-2570A>G | |
| XM_011538015.1:c.8807-2570A>G | XP_011536317.1:n.8807-2570A>G | |
| XM_011538016.1:c.8807-2570A>G | XP_011536318.1:n.8807-2570A>G | |
| XM_011538017.1:c.8660-2570A>G | XP_011536319.1:n.8660-2570A>G | |
| XM_011538018.1:c.6512-2570A>G | XP_011536320.1:n.6512-2570A>G | |
| XM_011538019.1:c.5837-2570A>G | XP_011536321.1:n.5837-2570A>G | |
| XM_005253555.3:c.8996-2570A>G | XP_005253612.1:n.8996-2570A>G | |
| XM_011538014.2:c.8837-2570A>G | XP_011536316.1:n.8837-2570A>G | |
| XM_011538015.3:c.8807-2570A>G | XP_011536317.1:n.8807-2570A>G | |
| XM_011538016.2:c.8807-2570A>G | XP_011536318.1:n.8807-2570A>G | |
| XM_011538017.3:c.8660-2570A>G | XP_011536319.1:n.8660-2570A>G | |
| XM_011538019.2:c.5837-2570A>G | XP_011536321.1:n.5837-2570A>G | |
| XM_017018960.1:c.8995+3350A>G | XP_016874449.1:n.8995+3350A>G | |
| XM_017018961.1:c.8687-2570A>G | XP_016874450.1:n.8687-2570A>G | |
| XM_017018962.1:c.5756-2570A>G | XP_016874451.1:n.5756-2570A>G | |
| XM_024448875.1:c.1244-2570A>G | XP_024304643.1:n.1244-2570A>G | |
| NM_001372106.1:c.8996-2570A>G MANE Select | NP_001359035.1:n.8996-2570A>G |