Linked Data
ClinVar Variation Id:
2633588
dbSNP Id:
rs1057516713
gnomAD v2:
1-98015302-T-G
gnomAD v3:
1-97549746-T-G
gnomAD v4:
1-97549746-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549746T>G , CM000663.2:g.97549746T>G | GRCh38 |
| NC_000001.10:g.98015302T>G , CM000663.1:g.98015302T>G | GRCh37 |
| NC_000001.9:g.97787890T>G | NCBI36 |
| NG_008807.2:g.376314A>C , LRG_722:g.376314A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.1340-2A>C MANE Select | ENSP00000359211.3:n.1340-2A>C | |
| ENST00000370192.7:c.1340-2A>C | ENSP00000359211.3:n.1340-2A>C | |
| NM_000110.3:c.1340-2A>C , LRG_722t1:c.1340-2A>C | NP_000101.2:n.1340-2A>C | |
| XM_005270562.3:c.1340-2A>C | XP_005270619.2:n.1340-2A>C | |
| XM_006710397.2:c.1340-2A>C | XP_006710460.1:n.1340-2A>C | |
| XM_006710397.3:c.1340-2A>C | XP_006710460.1:n.1340-2A>C | |
| XM_017000507.1:c.1229-2A>C | XP_016855996.1:n.1229-2A>C | |
| XM_017000508.2:c.845-2A>C | XP_016855997.1:n.845-2A>C | |
| XM_017000509.2:c.845-2A>C | XP_016855998.1:n.845-2A>C | |
| XM_017000510.1:c.845-2A>C | XP_016855999.1:n.845-2A>C | |
| NM_000110.4:c.1340-2A>C MANE Select | NP_000101.2:n.1340-2A>C |