Linked Data
ClinVar Variation Id:
343474
ClinVar RCV Id:
RCV000372795
dbSNP Id:
rs886058019
gnomAD v3:
3-136327147-A-G
gnomAD v4:
3-136327147-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136327147A>G , CM000665.2:g.136327147A>G | GRCh38 |
| NC_000003.11:g.136045989A>G , CM000665.1:g.136045989A>G | GRCh37 |
| NC_000003.10:g.137528679A>G | NCBI36 |
| NG_008939.1:g.81823A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1199-8A>G MANE Select | ENSP00000251654.4:n.1199-8A>G | |
| ENST00000251654.8:c.1199-8A>G | ENSP00000251654.4:n.1199-8A>G | |
| ENST00000462637.5:c.1130-8A>G | ENSP00000420391.1:n.1130-8A>G | |
| ENST00000466072.5:c.1259-8A>G | ENSP00000420158.1:n.1259-8A>G | |
| ENST00000468777.5:c.1292-8A>G | ENSP00000419129.1:n.1292-8A>G | |
| ENST00000469217.5:c.1259-8A>G | ENSP00000419027.1:n.1259-8A>G | |
| ENST00000471595.5:c.1199-8A>G | ENSP00000417549.1:n.1199-8A>G | |
| ENST00000473073.1:n.1392A>G | ||
| ENST00000474833.5:n.823+237A>G | ||
| ENST00000478469.5:c.885-7133A>G | ENSP00000420759.1:n.885-7133A>G | |
| ENST00000482086.5:c.851-8A>G | ENSP00000417253.1:n.851-8A>G | |
| ENST00000483687.5:c.1142-8A>G | ENSP00000420639.1:n.1142-8A>G | |
| ENST00000484181.5:c.1198+237A>G | ENSP00000417937.1:n.1198+237A>G | |
| ENST00000490504.5:c.1028-8A>G | ENSP00000418307.1:n.1028-8A>G | |
| NM_000532.4:c.1199-8A>G | NP_000523.2:n.1199-8A>G | |
| NM_001178014.1:c.1259-8A>G | NP_001171485.1:n.1259-8A>G | |
| NM_000532.5:c.1199-8A>G MANE Select | NP_000523.2:n.1199-8A>G | |
| NM_001178014.2:c.1259-8A>G | NP_001171485.1:n.1259-8A>G |