Linked Data
ClinVar Variation Id:
585804
dbSNP Id:
rs74774246
ExAC:
1:98157362 G / A
gnomAD v2:
1-98157362-G-A
gnomAD v3:
1-97691806-G-A
gnomAD v4:
1-97691806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691806G>A , CM000663.2:g.97691806G>A | GRCh38 |
| NC_000001.10:g.98157362G>A , CM000663.1:g.98157362G>A | GRCh37 |
| NC_000001.9:g.97929950G>A | NCBI36 |
| NG_008807.2:g.234254C>T , LRG_722:g.234254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.681-8C>T MANE Select | ENSP00000359211.3:n.681-8C>T | |
| ENST00000370192.7:c.681-8C>T | ENSP00000359211.3:n.681-8C>T | |
| ENST00000474241.1:n.445-8C>T | ||
| NM_000110.3:c.681-8C>T , LRG_722t1:c.681-8C>T | NP_000101.2:n.681-8C>T | |
| XM_005270562.3:c.681-8C>T | XP_005270619.2:n.681-8C>T | |
| XM_006710397.2:c.681-8C>T | XP_006710460.1:n.681-8C>T | |
| XM_006710397.3:c.681-8C>T | XP_006710460.1:n.681-8C>T | |
| XM_017000507.1:c.570-8C>T | XP_016855996.1:n.570-8C>T | |
| XM_017000508.2:c.186-8C>T | XP_016855997.1:n.186-8C>T | |
| XM_017000509.2:c.186-8C>T | XP_016855998.1:n.186-8C>T | |
| XM_017000510.1:c.186-8C>T | XP_016855999.1:n.186-8C>T | |
| NM_000110.4:c.681-8C>T MANE Select | NP_000101.2:n.681-8C>T |