Linked Data
dbSNP Id:
rs1196986076
gnomAD v2:
17-29283693-C-A
gnomAD v3:
17-30956675-C-A
gnomAD v4:
17-30956675-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956675C>A , CM000679.2:g.30956675C>A | GRCh38 |
| NC_000017.10:g.29283693C>A , CM000679.1:g.29283693C>A | GRCh37 |
| NC_000017.9:g.26307819C>A | NCBI36 |
| NG_051975.1:g.39940C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.1111+206C>A MANE Select | ENSP00000329468.3:n.1111+206C>A | |
| ENST00000330889.7:c.1111+206C>A | ENSP00000329468.3:n.1111+206C>A | |
| ENST00000470962.1:n.531+206C>A | ||
| ENST00000480980.1:n.751C>A | ||
| ENST00000580525.5:c.1129+206C>A | ENSP00000464121.1:n.1129+206C>A | |
| ENST00000584828.5:c.402+284C>A | ||
| ENST00000585130.5:c.*710+206C>A | ENSP00000464120.1:n.*710+206C>A | |
| NM_018404.2:c.1111+206C>A | NP_060874.1:n.1111+206C>A | |
| XM_005258008.2:c.1129+206C>A | XP_005258065.1:n.1129+206C>A | |
| XM_005258011.2:c.1066+206C>A | XP_005258068.1:n.1066+206C>A | |
| XM_006721973.2:c.1051+284C>A | XP_006722036.1:n.1051+284C>A | |
| XM_011524993.1:c.1126+206C>A | XP_011523295.1:n.1126+206C>A | |
| XM_011524994.1:c.1108+206C>A | XP_011523296.1:n.1108+206C>A | |
| NM_001346712.1:c.1129+206C>A | NP_001333641.1:n.1129+206C>A | |
| NM_001346714.1:c.1108+206C>A | NP_001333643.1:n.1108+206C>A | |
| NM_001346716.1:c.1033+284C>A | NP_001333645.1:n.1033+284C>A | |
| NR_144488.1:n.1310+206C>A | ||
| XM_024450832.1:c.1126+206C>A | XP_024306600.1:n.1126+206C>A | |
| XM_024450833.1:c.1066+206C>A | XP_024306601.1:n.1066+206C>A | |
| XM_024450834.1:c.1051+284C>A | XP_024306602.1:n.1051+284C>A | |
| XM_024450835.1:c.745+206C>A | XP_024306603.1:n.745+206C>A | |
| NM_018404.3:c.1111+206C>A MANE Select | NP_060874.1:n.1111+206C>A | |
| NM_001346712.2:c.1129+206C>A | NP_001333641.1:n.1129+206C>A | |
| NM_001346714.2:c.1108+206C>A | NP_001333643.1:n.1108+206C>A | |
| NM_001346716.2:c.1033+284C>A | NP_001333645.1:n.1033+284C>A | |
| NR_144488.2:n.1101+206C>A |