Linked Data
dbSNP Id:
rs11049453
gnomAD v2:
12-28355929-G-A
gnomAD v3:
12-28202996-G-A
gnomAD v4:
12-28202996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.28202996G>A , CM000674.2:g.28202996G>A | GRCh38 |
| NC_000012.11:g.28355929G>A , CM000674.1:g.28355929G>A | GRCh37 |
| NC_000012.10:g.28247196G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000536442.6:c.-15+12355G>A MANE Select | ENSP00000445660.2:n.-15+12355G>A | |
| ENST00000535520.5:c.-15+19157G>A | ENSP00000438558.1:n.-15+19157G>A | |
| ENST00000536154.5:c.-85-22799G>A | ENSP00000444440.1:n.-85-22799G>A | |
| ENST00000536442.5:c.-15+12355G>A | ENSP00000445660.1:n.-15+12355G>A | |
| ENST00000538586.5:c.-15+19157G>A | ENSP00000440194.1:n.-15+19157G>A | |
| ENST00000539107.5:c.-15+12355G>A | ENSP00000440513.1:n.-15+12355G>A | |
| ENST00000540794.5:c.42+19157G>A | ENSP00000441714.1:n.42+19157G>A | |
| ENST00000543534.5:c.-97+3940G>A | ENSP00000446045.1:n.-97+3940G>A | |
| ENST00000544649.5:n.198+12355G>A | ||
| ENST00000544780.5:n.290+3940G>A | ||
| ENST00000545336.5:c.-224+12355G>A | ENSP00000438040.1:n.-224+12355G>A | |
| XM_005253413.1:c.-15+12355G>A | XP_005253470.1:n.-15+12355G>A | |
| XM_006719104.2:c.-224+12355G>A | XP_006719167.1:n.-224+12355G>A | |
| XM_006719105.1:c.-97+12355G>A | XP_006719168.1:n.-97+12355G>A | |
| XM_011520729.1:c.-82+12355G>A | XP_011519031.1:n.-82+12355G>A | |
| XM_011520730.1:c.-164+12355G>A | XP_011519032.1:n.-164+12355G>A | |
| XM_011520734.1:c.-378+12355G>A | XP_011519036.1:n.-378+12355G>A | |
| XM_011520735.1:c.-351+12355G>A | XP_011519037.1:n.-351+12355G>A | |
| NM_001330367.1:c.-15+12355G>A | NP_001317296.1:n.-15+12355G>A | |
| NM_001352078.1:c.-97+12355G>A | NP_001339007.1:n.-97+12355G>A | |
| NM_001352079.1:c.-97+3940G>A | NP_001339008.1:n.-97+3940G>A | |
| NM_001352080.1:c.-86-7967G>A | NP_001339009.1:n.-86-7967G>A | |
| NM_001352081.1:c.-82+12355G>A | NP_001339010.1:n.-82+12355G>A | |
| NM_001352082.1:c.-82+12355G>A | NP_001339011.1:n.-82+12355G>A | |
| NM_001352083.1:c.-15+12355G>A | NP_001339012.1:n.-15+12355G>A | |
| NM_001352084.1:c.-15+12355G>A | NP_001339013.1:n.-15+12355G>A | |
| NM_001352086.1:c.-258+3940G>A | NP_001339015.1:n.-258+3940G>A | |
| NM_001352087.1:c.-378+12355G>A | NP_001339016.1:n.-378+12355G>A | |
| NM_018318.4:c.-15+12355G>A | NP_060788.3:n.-15+12355G>A | |
| XM_006719104.3:c.-224+12355G>A | XP_006719167.1:n.-224+12355G>A | |
| XM_017019569.1:c.-142+12355G>A | XP_016875058.1:n.-142+12355G>A | |
| XM_017019572.1:c.-142+12355G>A | XP_016875061.1:n.-142+12355G>A | |
| XM_017019574.2:c.-191+12355G>A | XP_016875063.1:n.-191+12355G>A | |
| XM_024449033.1:c.-164+12355G>A | XP_024304801.1:n.-164+12355G>A | |
| XM_024449034.1:c.-164+3940G>A | XP_024304802.1:n.-164+3940G>A | |
| XM_024449036.1:c.-224+12355G>A | XP_024304804.1:n.-224+12355G>A | |
| XM_024449037.1:c.-164+12355G>A | XP_024304805.1:n.-164+12355G>A | |
| XM_024449039.1:c.-258+12355G>A | XP_024304807.1:n.-258+12355G>A | |
| NM_001330367.2:c.-15+12355G>A | NP_001317296.1:n.-15+12355G>A | |
| NM_001352078.2:c.-97+12355G>A | NP_001339007.1:n.-97+12355G>A | |
| NM_001352079.2:c.-97+3940G>A | NP_001339008.1:n.-97+3940G>A | |
| NM_001352080.2:c.-86-7967G>A | NP_001339009.1:n.-86-7967G>A | |
| NM_001352081.2:c.-82+12355G>A | NP_001339010.1:n.-82+12355G>A | |
| NM_001352082.2:c.-82+12355G>A | NP_001339011.1:n.-82+12355G>A | |
| NM_001352083.2:c.-15+12355G>A | NP_001339012.1:n.-15+12355G>A | |
| NM_001352084.2:c.-15+12355G>A | NP_001339013.1:n.-15+12355G>A | |
| NM_001352086.2:c.-258+3940G>A | NP_001339015.1:n.-258+3940G>A | |
| NM_001352087.2:c.-378+12355G>A | NP_001339016.1:n.-378+12355G>A | |
| NM_018318.5:c.-15+12355G>A MANE Select | NP_060788.3:n.-15+12355G>A | |
| NM_001387000.1:c.-224+12355G>A | NP_001373929.1:n.-224+12355G>A |