Linked Data
ClinVar Variation Id:
5093
ClinVar RCV Id:
RCV001799496
dbSNP Id:
rs3792267
gnomAD v2:
2-241531174-G-A
gnomAD v3:
2-240591757-G-A
gnomAD v4:
2-240591757-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240591757G>A , CM000664.2:g.240591757G>A | GRCh38 |
| NC_000002.11:g.241531174G>A , CM000664.1:g.241531174G>A | GRCh37 |
| NC_000002.10:g.241179847G>A | NCBI36 |
| NG_011558.2:g.10042G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391984.7:c.471-176G>A MANE Select | ENSP00000375844.2:n.471-176G>A | |
| ENST00000270361.15:c.460-176G>A | ENSP00000270361.11:n.460-176G>A | |
| ENST00000270364.11:c.273+2283G>A | ENSP00000270364.7:n.273+2283G>A | |
| ENST00000352879.8:c.141+4705G>A | ENSP00000289381.6:n.141+4705G>A | |
| ENST00000354082.8:c.471-176G>A | ENSP00000270362.6:n.471-176G>A | |
| ENST00000357048.8:c.471-176G>A | ENSP00000349556.4:n.471-176G>A | |
| ENST00000391983.7:c.471-176G>A | ENSP00000375843.3:n.471-176G>A | |
| ENST00000391984.6:c.471-176G>A | ENSP00000375844.2:n.471-176G>A | |
| ENST00000404753.7:c.471-176G>A | ENSP00000384422.3:n.471-176G>A | |
| ENST00000416591.5:c.471-176G>A | ENSP00000400144.1:n.471-176G>A | |
| ENST00000432084.2:c.21-176G>A | ENSP00000407090.2:n.21-176G>A | |
| ENST00000494738.5:n.1874G>A | ||
| NM_023083.3:c.471-176G>A | NP_075571.1:n.471-176G>A | |
| NM_023085.3:c.471-176G>A | NP_075573.2:n.471-176G>A | |
| NM_023083.4:c.471-176G>A MANE Select | NP_075571.2:n.471-176G>A | |
| NM_023085.4:c.471-176G>A | NP_075573.3:n.471-176G>A |