Linked Data
ClinVar Variation Id:
1651476
ClinVar RCV Id:
RCV002155768
dbSNP Id:
rs2108135861
gnomAD v4:
3-164996780-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996780A>C , CM000665.2:g.164996780A>C | GRCh38 |
| NC_000003.11:g.164714568A>C , CM000665.1:g.164714568A>C | GRCh37 |
| NC_000003.10:g.166197262A>C | NCBI36 |
| NG_017043.1:g.86716T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4541-8T>G MANE Select | ENSP00000264382.3:n.4541-8T>G | |
| ENST00000264382.7:c.4541-8T>G | ENSP00000264382.3:n.4541-8T>G | |
| NM_001041.3:c.4541-8T>G | NP_001032.2:n.4541-8T>G | |
| XM_011513078.1:c.4442-8T>G | XP_011511380.1:n.4442-8T>G | |
| XM_011513078.2:c.4442-8T>G | XP_011511380.1:n.4442-8T>G | |
| NM_001041.4:c.4541-8T>G MANE Select | NP_001032.2:n.4541-8T>G |