Linked Data
ClinVar Variation Id:
2983281
ClinVar RCV Id:
RCV003847896
dbSNP Id:
rs748109391
ExAC:
7:81350174 A / C
gnomAD v2:
7-81350174-A-C
gnomAD v3:
7-81720858-A-C
gnomAD v4:
7-81720858-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81720858A>C , CM000669.2:g.81720858A>C | GRCh38 |
| NC_000007.13:g.81350174A>C , CM000669.1:g.81350174A>C | GRCh37 |
| NC_000007.12:g.81188110A>C | NCBI36 |
| NG_016274.1:g.54279T>G | |
| NG_016274.2:g.54279T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.1169-11T>G MANE Select | ENSP00000222390.5:n.1169-11T>G | |
| ENST00000457544.7:c.1154-11T>G | ENSP00000391238.2:n.1154-11T>G | |
| ENST00000222390.9:c.1169-11T>G | ENSP00000222390.5:n.1169-11T>G | |
| ENST00000457544.6:c.1154-11T>G | ENSP00000391238.2:n.1154-11T>G | |
| NM_000601.4:c.1169-11T>G | NP_000592.3:n.1169-11T>G | |
| NM_001010932.1:c.1154-11T>G | NP_001010932.1:n.1154-11T>G | |
| XM_006715956.2:c.1169-11T>G | XP_006716019.1:n.1169-11T>G | |
| XM_011516115.1:c.1154-11T>G | XP_011514417.1:n.1154-11T>G | |
| NM_000601.5:c.1169-11T>G | NP_000592.3:n.1169-11T>G | |
| NM_001010932.2:c.1154-11T>G | NP_001010932.1:n.1154-11T>G | |
| XM_011516115.2:c.1154-11T>G | XP_011514417.1:n.1154-11T>G | |
| NM_000601.6:c.1169-11T>G MANE Select | NP_000592.3:n.1169-11T>G | |
| NM_001010932.3:c.1154-11T>G | NP_001010932.1:n.1154-11T>G |