Linked Data
ClinVar Variation Id:
374666
dbSNP Id:
rs117914586
ExAC:
12:57906143 A / G
gnomAD v2:
12-57906143-A-G
gnomAD v3:
12-57512360-A-G
gnomAD v4:
12-57512360-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57512360A>G , CM000674.2:g.57512360A>G | GRCh38 |
| NC_000012.11:g.57906143A>G , CM000674.1:g.57906143A>G | GRCh37 |
| NC_000012.10:g.56192410A>G | NCBI36 |
| NG_034077.1:g.29408A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262027.10:c.1753+7A>G MANE Select | ENSP00000262027.5:n.1753+7A>G | |
| ENST00000262027.9:c.1753+7A>G | ENSP00000262027.5:n.1753+7A>G | |
| ENST00000537638.6:c.*45+7A>G | ENSP00000446168.2:n.*45+7A>G | |
| ENST00000545888.6:c.*1254+7A>G | ENSP00000439307.2:n.*1254+7A>G | |
| ENST00000546971.5:n.497+7A>G | ||
| ENST00000548630.1:n.453A>G | ||
| ENST00000548944.1:c.134-4135A>G | ENSP00000449071.1:n.134-4135A>G | |
| ENST00000549048.1:n.418+7A>G | ||
| ENST00000628866.2:c.*1254+7A>G | ENSP00000486738.1:n.*1254+7A>G | |
| NM_004990.3:c.1753+7A>G | NP_004981.2:n.1753+7A>G | |
| XM_006719398.2:c.1051+7A>G | XP_006719461.1:n.1051+7A>G | |
| XM_011538353.1:c.*45+7A>G | XP_011536655.1:n.*45+7A>G | |
| XM_006719398.4:c.1051+7A>G | XP_006719461.1:n.1051+7A>G | |
| XR_001748704.2:n.1709+7A>G | ||
| XR_002957327.1:n.1700+7A>G | ||
| NM_004990.4:c.1753+7A>G MANE Select | NP_004981.2:n.1753+7A>G |