Linked Data
ClinVar Variation Id:
1628577
ClinVar RCV Id:
RCV002116201
dbSNP Id:
rs1223559773
gnomAD v2:
12-124156038-T-G
gnomAD v3:
12-123671491-T-G
gnomAD v4:
12-123671491-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123671491T>G , CM000674.2:g.123671491T>G | GRCh38 |
| NC_000012.11:g.124156038T>G , CM000674.1:g.124156038T>G | GRCh37 |
| NC_000012.10:g.122721991T>G | NCBI36 |
| NG_030442.1:g.5379T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.83-16T>G MANE Select | ENSP00000304941.5:n.83-16T>G | |
| ENST00000679504.1:c.83-16T>G | ENSP00000505006.1:n.83-16T>G | |
| ENST00000680500.1:c.83-16T>G | ENSP00000506438.1:n.83-16T>G | |
| ENST00000680574.1:c.83-16T>G | ENSP00000505356.1:n.83-16T>G | |
| ENST00000303372.6:c.83-16T>G | ENSP00000304941.5:n.83-16T>G | |
| ENST00000426174.6:c.83-16T>G | ENSP00000395171.2:n.83-16T>G | |
| ENST00000541523.1:c.109-16T>G | ENSP00000437644.1:n.109-16T>G | |
| NM_001143850.2:c.83-16T>G | NP_001137322.1:n.83-16T>G | |
| NM_024809.4:c.83-16T>G | NP_079085.2:n.83-16T>G | |
| XM_005253623.2:c.83-16T>G | XP_005253680.1:n.83-16T>G | |
| XM_006719605.2:c.83-16T>G | XP_006719668.1:n.83-16T>G | |
| XM_006719605.3:c.83-16T>G | XP_006719668.1:n.83-16T>G | |
| XM_017019974.1:c.83-16T>G | XP_016875463.1:n.83-16T>G | |
| XM_017019975.1:c.-700-16T>G | XP_016875464.1:n.-700-16T>G | |
| NM_024809.5:c.83-16T>G MANE Select | NP_079085.2:n.83-16T>G | |
| NM_001143850.3:c.83-16T>G | NP_001137322.1:n.83-16T>G |