Linked Data
ClinVar Variation Id:
95529
dbSNP Id:
rs199682486
ExAC:
1:63868019 G / A
gnomAD v2:
1-63868019-G-A
gnomAD v3:
1-63402348-G-A
gnomAD v4:
1-63402348-G-A
MyVariant Identifiers:
chr1:g.63868019G>A (hg19)
chr1:g.63868019_63868020delinsAT (hg19)
chr1:g.63402348G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63402348G>A , CM000663.2:g.63402348G>A | GRCh38 |
| NC_000001.10:g.63868019G>A , CM000663.1:g.63868019G>A | GRCh37 |
| NC_000001.9:g.63640607G>A | NCBI36 |
| NG_008925.2:g.39759G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263440.6:c.257+5G>A MANE Select | ENSP00000263440.5:n.257+5G>A | |
| ENST00000603108.6:c.257+5G>A | ENSP00000473934.2:n.257+5G>A | |
| ENST00000647818.1:c.257+5G>A | ENSP00000497667.1:n.257+5G>A | |
| ENST00000648964.1:c.172+5G>A | ENSP00000497828.1:n.172+5G>A | |
| ENST00000649570.1:c.257+5G>A | ENSP00000497742.1:n.257+5G>A | |
| ENST00000650494.1:c.257+5G>A | ENSP00000497170.1:n.257+5G>A | |
| ENST00000263440.4:c.257+5G>A | ENSP00000263440.4:n.257+5G>A | |
| ENST00000371108.8:c.257+5G>A | ENSP00000360149.4:n.257+5G>A | |
| ENST00000603108.5:c.257+5G>A | ENSP00000473934.1:n.257+5G>A | |
| NM_013339.3:c.257+5G>A | NP_037471.2:n.257+5G>A | |
| NM_013339.4:c.257+5G>A MANE Select | NP_037471.2:n.257+5G>A |