Linked Data
ClinVar Variation Id:
878396
ClinVar RCV Id:
RCV001104934
dbSNP Id:
rs1033092437
gnomAD v3:
1-97691712-T-A
gnomAD v4:
1-97691712-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691712T>A , CM000663.2:g.97691712T>A | GRCh38 |
| NC_000001.10:g.98157268T>A , CM000663.1:g.98157268T>A | GRCh37 |
| NC_000001.9:g.97929856T>A | NCBI36 |
| NG_008807.2:g.234348A>T , LRG_722:g.234348A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.762+5A>T MANE Select | ENSP00000359211.3:n.762+5A>T | |
| ENST00000370192.7:c.762+5A>T | ENSP00000359211.3:n.762+5A>T | |
| ENST00000474241.1:n.531A>T | ||
| NM_000110.3:c.762+5A>T , LRG_722t1:c.762+5A>T | NP_000101.2:n.762+5A>T | |
| XM_005270562.3:c.762+5A>T | XP_005270619.2:n.762+5A>T | |
| XM_006710397.2:c.762+5A>T | XP_006710460.1:n.762+5A>T | |
| XM_006710397.3:c.762+5A>T | XP_006710460.1:n.762+5A>T | |
| XM_017000507.1:c.651+5A>T | XP_016855996.1:n.651+5A>T | |
| XM_017000508.2:c.267+5A>T | XP_016855997.1:n.267+5A>T | |
| XM_017000509.2:c.267+5A>T | XP_016855998.1:n.267+5A>T | |
| XM_017000510.1:c.267+5A>T | XP_016855999.1:n.267+5A>T | |
| NM_000110.4:c.762+5A>T MANE Select | NP_000101.2:n.762+5A>T |