Linked Data
ClinVar Variation Id:
1239841
ClinVar RCV Id:
RCV001637805
dbSNP Id:
rs2209314
gnomAD v2:
20-52778961-T-C
gnomAD v3:
20-54162422-T-C
gnomAD v4:
20-54162422-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54162422T>C , CM000682.2:g.54162422T>C | GRCh38 |
| NC_000020.10:g.52778961T>C , CM000682.1:g.52778961T>C | GRCh37 |
| NC_000020.9:g.52212368T>C | NCBI36 |
| NG_008334.1:g.16556A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216862.8:c.990+295A>G MANE Select | ENSP00000216862.3:n.990+295A>G | |
| ENST00000216862.7:c.990+295A>G | ENSP00000216862.3:n.990+295A>G | |
| ENST00000395954.3:c.564+295A>G | ENSP00000379284.3:n.564+295A>G | |
| ENST00000395955.7:c.990+295A>G | ENSP00000379285.3:n.990+295A>G | |
| NM_000782.4:c.990+295A>G | NP_000773.2:n.990+295A>G | |
| NM_001128915.1:c.990+295A>G | NP_001122387.1:n.990+295A>G | |
| XM_005260304.3:c.990+295A>G | XP_005260361.1:n.990+295A>G | |
| XM_005260304.5:c.990+295A>G | XP_005260361.1:n.990+295A>G | |
| XM_017027691.2:c.990+295A>G | XP_016883180.1:n.990+295A>G | |
| XM_017027692.2:c.990+295A>G | XP_016883181.1:n.990+295A>G | |
| XM_017027693.2:c.990+295A>G | XP_016883182.1:n.990+295A>G | |
| NM_000782.5:c.990+295A>G MANE Select | NP_000773.2:n.990+295A>G | |
| NM_001128915.2:c.990+295A>G | NP_001122387.1:n.990+295A>G |