Linked Data
dbSNP Id:
rs180515
gnomAD v2:
17-58024275-A-G
gnomAD v3:
17-59946914-A-G
gnomAD v4:
17-59946914-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59946914A>G , CM000679.2:g.59946914A>G | GRCh38 |
| NC_000017.10:g.58024275A>G , CM000679.1:g.58024275A>G | GRCh37 |
| NC_000017.9:g.55379057A>G | NCBI36 |
| NG_029513.1:g.58833A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225577.9:c.*126A>G MANE Select | ENSP00000225577.4:n.*126A>G | |
| ENST00000225577.8:c.*126A>G | ENSP00000225577.4:n.*126A>G | |
| ENST00000393021.7:c.*126A>G | ENSP00000376744.3:n.*126A>G | |
| ENST00000406116.7:c.1341-673A>G | ENSP00000384335.3:n.1341-673A>G | |
| ENST00000443572.6:c.*126A>G | ENSP00000441993.1:n.*126A>G | |
| ENST00000472940.5:c.*1739A>G | ENSP00000468058.1:n.*1739A>G | |
| ENST00000475155.1:n.692A>G | ||
| ENST00000591035.1:c.149+1396A>G | ENSP00000468280.1:n.149+1396A>G | |
| NM_001272042.1:c.*126A>G | NP_001258971.1:n.*126A>G | |
| NM_001272043.1:c.1341-673A>G | NP_001258972.1:n.1341-673A>G | |
| NM_001272044.1:c.*126A>G | NP_001258973.1:n.*126A>G | |
| NM_001272060.1:c.*126A>G | NP_001258989.1:n.*126A>G | |
| NM_003161.3:c.*126A>G | NP_003152.1:n.*126A>G | |
| XM_011525101.1:c.*126A>G | XP_011523403.1:n.*126A>G | |
| XM_011525103.1:c.*126A>G | XP_011523405.1:n.*126A>G | |
| XM_011525104.1:c.*126A>G | XP_011523406.1:n.*126A>G | |
| XM_011525101.3:c.*126A>G | XP_011523403.1:n.*126A>G | |
| XM_011525103.3:c.*126A>G | XP_011523405.1:n.*126A>G | |
| XM_017024929.1:c.*126A>G | XP_016880418.1:n.*126A>G | |
| XM_017024930.2:c.*126A>G | XP_016880419.1:n.*126A>G | |
| XM_017024931.2:c.*126A>G | XP_016880420.1:n.*126A>G | |
| XM_017024932.2:c.*126A>G | XP_016880421.1:n.*126A>G | |
| XM_017024933.2:c.*126A>G | XP_016880422.1:n.*126A>G | |
| XR_001752581.2:n.1950A>G | ||
| XR_001752582.2:n.1757A>G | ||
| XR_001752583.2:n.1649A>G | ||
| XR_002958051.1:n.3441A>G | ||
| NM_003161.4:c.*126A>G MANE Select | NP_003152.1:n.*126A>G | |
| NM_001272043.2:c.1341-673A>G | NP_001258972.1:n.1341-673A>G | |
| NM_001369669.1:c.*126A>G | NP_001356598.1:n.*126A>G | |
| NM_001369670.1:c.*126A>G | NP_001356599.1:n.*126A>G | |
| NM_001369671.1:c.*126A>G | NP_001356600.1:n.*126A>G | |
| NM_001369672.1:c.*126A>G | NP_001356601.1:n.*126A>G | |
| NM_001369673.1:c.*1155A>G | NP_001356602.1:n.*1155A>G | |
| NM_001369674.1:c.*1297A>G | NP_001356603.1:n.*1297A>G | |
| NM_001369675.1:c.*1189A>G | NP_001356604.1:n.*1189A>G | |
| NM_001369676.1:c.*1058A>G | NP_001356605.1:n.*1058A>G | |
| NM_001369677.1:c.*1408A>G | NP_001356606.1:n.*1408A>G | |
| NM_001369678.1:c.*1155A>G | NP_001356607.1:n.*1155A>G | |
| NM_001369679.1:c.*1412A>G | NP_001356608.1:n.*1412A>G | |
| NR_161455.1:n.1620A>G | ||
| NR_161456.1:n.1771A>G | ||
| NR_161457.1:n.1667A>G | ||
| NR_161458.1:n.1965A>G | ||
| NR_161459.1:n.1746A>G | ||
| NR_161460.1:n.2011A>G | ||
| NR_161461.1:n.1772A>G | ||
| NR_161462.1:n.1664A>G | ||
| NM_001272042.2:c.*126A>G | NP_001258971.1:n.*126A>G | |
| NM_001272044.2:c.*126A>G | NP_001258973.1:n.*126A>G | |
| NM_001272060.2:c.*126A>G | NP_001258989.1:n.*126A>G |