Linked Data
ClinVar Variation Id:
1356540
ClinVar RCV Id:
RCV001870147
dbSNP Id:
rs374697271
ExAC:
12:48383006 C / T
gnomAD v2:
12-48383006-C-T
gnomAD v4:
12-47989223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47989223C>T , CM000674.2:g.47989223C>T | GRCh38 |
| NC_000012.11:g.48383006C>T , CM000674.1:g.48383006C>T | GRCh37 |
| NC_000012.10:g.46669273C>T | NCBI36 |
| NG_008072.1:g.20280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.915+5G>A | ENSP00000338213.6:n.915+5G>A | |
| ENST00000380518.8:c.1122+5G>A MANE Select | ENSP00000369889.3:n.1122+5G>A | |
| ENST00000337299.6:c.915+5G>A | ENSP00000338213.6:n.915+5G>A | |
| ENST00000380518.7:c.1122+5G>A | ENSP00000369889.3:n.1122+5G>A | |
| NM_001844.4:c.1122+5G>A | NP_001835.3:n.1122+5G>A | |
| NM_033150.2:c.915+5G>A | NP_149162.2:n.915+5G>A | |
| XM_006719242.2:c.1266+5G>A | XP_006719305.2:n.1266+5G>A | |
| XM_011537928.1:c.1266+5G>A | XP_011536230.1:n.1266+5G>A | |
| XM_011537929.1:c.1266+5G>A | XP_011536231.1:n.1266+5G>A | |
| XM_011537930.1:c.1266+5G>A | XP_011536232.1:n.1266+5G>A | |
| XM_011537931.1:c.1266+5G>A | XP_011536233.1:n.1266+5G>A | |
| XM_011537932.1:c.1266+5G>A | XP_011536234.1:n.1266+5G>A | |
| XM_011537933.1:c.1266+5G>A | XP_011536235.1:n.1266+5G>A | |
| XM_011537934.1:c.1263+5G>A | XP_011536236.1:n.1263+5G>A | |
| XM_017018828.1:c.1266+5G>A | XP_016874317.1:n.1266+5G>A | |
| XM_017018829.1:c.1263+5G>A | XP_016874318.1:n.1263+5G>A | |
| XM_017018830.1:c.1056+5G>A | XP_016874319.1:n.1056+5G>A | |
| XM_017018831.2:c.576+5G>A | XP_016874320.1:n.576+5G>A | |
| NM_001844.5:c.1122+5G>A MANE Select | NP_001835.3:n.1122+5G>A | |
| NM_033150.3:c.915+5G>A | NP_149162.2:n.915+5G>A |