Linked Data
ClinVar Variation Id:
31076
ClinVar RCV Id:
RCV000024072
RCV000305893
RCV001261610
RCV000727919
RCV003987331
RCV002513219
RCV003993750
dbSNP Id:
rs374349989
ExAC:
12:124184249 A / G
gnomAD v2:
12-124184249-A-G
gnomAD v3:
12-123699702-A-G
gnomAD v4:
12-123699702-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123699702A>G , CM000674.2:g.123699702A>G | GRCh38 |
| NC_000012.11:g.124184249A>G , CM000674.1:g.124184249A>G | GRCh37 |
| NC_000012.10:g.122750202A>G | NCBI36 |
| NG_030442.1:g.33590A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.1506-2A>G MANE Select | ENSP00000304941.5:n.1506-2A>G | |
| ENST00000679504.1:c.1503-2A>G | ENSP00000505006.1:n.1503-2A>G | |
| ENST00000680394.1:n.607-2A>G | ||
| ENST00000680500.1:c.1506-2A>G | ENSP00000506438.1:n.1506-2A>G | |
| ENST00000680574.1:c.1371-2A>G | ENSP00000505356.1:n.1371-2A>G | |
| ENST00000303372.6:c.1506-2A>G | ENSP00000304941.5:n.1506-2A>G | |
| ENST00000426174.6:c.1503-2A>G | ENSP00000395171.2:n.1503-2A>G | |
| ENST00000543998.1:n.2160-2A>G | ||
| NM_001143850.2:c.1503-2A>G | NP_001137322.1:n.1503-2A>G | |
| NM_024809.4:c.1506-2A>G | NP_079085.2:n.1506-2A>G | |
| XM_005253623.2:c.1371-2A>G | XP_005253680.1:n.1371-2A>G | |
| XM_006719605.2:c.1506-2A>G | XP_006719668.1:n.1506-2A>G | |
| XM_011538748.1:c.594-2A>G | XP_011537050.1:n.594-2A>G | |
| XM_006719605.3:c.1506-2A>G | XP_006719668.1:n.1506-2A>G | |
| XM_017019974.1:c.1368-2A>G | XP_016875463.1:n.1368-2A>G | |
| XM_017019975.1:c.594-2A>G | XP_016875464.1:n.594-2A>G | |
| NM_024809.5:c.1506-2A>G MANE Select | NP_079085.2:n.1506-2A>G | |
| NM_001143850.3:c.1503-2A>G | NP_001137322.1:n.1503-2A>G |