Linked Data
ClinVar Variation Id:
386349
dbSNP Id:
rs1057522483
gnomAD v2:
1-63879836-G-A
gnomAD v3:
1-63414165-G-A
gnomAD v4:
1-63414165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63414165G>A , CM000663.2:g.63414165G>A | GRCh38 |
| NC_000001.10:g.63879836G>A , CM000663.1:g.63879836G>A | GRCh37 |
| NC_000001.9:g.63652424G>A | NCBI36 |
| NG_008925.2:g.51576G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263440.6:c.902+19G>A MANE Select | ENSP00000263440.5:n.902+19G>A | |
| ENST00000603108.6:c.902+19G>A | ENSP00000473934.2:n.902+19G>A | |
| ENST00000647818.1:c.*208+19G>A | ENSP00000497667.1:n.*208+19G>A | |
| ENST00000648964.1:c.*631+19G>A | ENSP00000497828.1:n.*631+19G>A | |
| ENST00000649570.1:c.*324+19G>A | ENSP00000497742.1:n.*324+19G>A | |
| ENST00000650494.1:c.*204+19G>A | ENSP00000497170.1:n.*204+19G>A | |
| ENST00000263440.4:c.908+19G>A | ENSP00000263440.4:n.908+19G>A | |
| ENST00000371108.8:c.902+19G>A | ENSP00000360149.4:n.902+19G>A | |
| ENST00000465969.5:n.491+19G>A | ||
| ENST00000603108.5:c.827-1708G>A | ENSP00000473934.1:n.827-1708G>A | |
| NM_013339.3:c.902+19G>A | NP_037471.2:n.902+19G>A | |
| NM_013339.4:c.902+19G>A MANE Select | NP_037471.2:n.902+19G>A |