Linked Data
dbSNP Id:
rs2239607
gnomAD v2:
12-109647280-A-G
gnomAD v3:
12-109209475-A-G
gnomAD v4:
12-109209475-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109209475A>G , CM000674.2:g.109209475A>G | GRCh38 |
| NC_000012.11:g.109647280A>G , CM000674.1:g.109647280A>G | GRCh37 |
| NC_000012.10:g.108131663A>G | NCBI36 |
| NG_046907.1:g.103292A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338432.12:c.3249+122A>G MANE Select | ENSP00000341044.7:n.3249+122A>G | |
| ENST00000338432.11:c.3249+122A>G | ENSP00000341044.7:n.3249+122A>G | |
| ENST00000377848.7:c.3249+122A>G | ENSP00000367079.3:n.3249+122A>G | |
| ENST00000377854.9:c.-754+122A>G | ENSP00000367085.6:n.-754+122A>G | |
| NM_001093.3:c.3249+122A>G | NP_001084.3:n.3249+122A>G | |
| XM_005253876.3:c.3249+122A>G | XP_005253933.1:n.3249+122A>G | |
| XM_006719365.2:c.3249+122A>G | XP_006719428.1:n.3249+122A>G | |
| XM_006719367.2:c.2643+122A>G | XP_006719430.1:n.2643+122A>G | |
| XM_011538259.1:c.3249+122A>G | XP_011536561.1:n.3249+122A>G | |
| XM_011538260.1:c.3249+122A>G | XP_011536562.1:n.3249+122A>G | |
| XM_011538261.1:c.3249+122A>G | XP_011536563.1:n.3249+122A>G | |
| XM_011538262.1:c.3249+122A>G | XP_011536564.1:n.3249+122A>G | |
| XM_011538263.1:c.3060+2619A>G | XP_011536565.1:n.3060+2619A>G | |
| XM_011538264.1:c.2622+122A>G | XP_011536566.1:n.2622+122A>G | |
| XM_011538265.1:c.3249+122A>G | XP_011536567.1:n.3249+122A>G | |
| XR_944530.1:n.3996+122A>G | ||
| XR_944531.1:n.3996+122A>G | ||
| XR_944532.1:n.3996+122A>G | ||
| XR_944533.1:n.3997+122A>G | ||
| XM_005253876.4:c.3249+122A>G | XP_005253933.1:n.3249+122A>G | |
| XM_006719367.4:c.2643+122A>G | XP_006719430.1:n.2643+122A>G | |
| XM_011538259.2:c.3249+122A>G | XP_011536561.1:n.3249+122A>G | |
| XM_011538263.3:c.3060+2619A>G | XP_011536565.1:n.3060+2619A>G | |
| XM_011538264.3:c.2622+122A>G | XP_011536566.1:n.2622+122A>G | |
| XM_011538265.2:c.3249+122A>G | XP_011536567.1:n.3249+122A>G | |
| XM_017019252.2:c.2454+2619A>G | XP_016874741.1:n.2454+2619A>G | |
| XR_002957320.1:n.4007+122A>G | ||
| XR_002957321.1:n.4007+122A>G | ||
| XR_002957322.1:n.2894+122A>G | ||
| XR_944530.2:n.4007+122A>G | ||
| XR_944532.3:n.4007+122A>G | ||
| NM_001093.4:c.3249+122A>G MANE Select | NP_001084.3:n.3249+122A>G |