Linked Data
ClinVar Variation Id:
500154
ClinVar RCV Id:
RCV000591224
dbSNP Id:
rs1554557963
gnomAD v4:
8-58491470-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58491470T>C , CM000670.2:g.58491470T>C | GRCh38 |
| NC_000008.10:g.59404029T>C , CM000670.1:g.59404029T>C | GRCh37 |
| NC_000008.9:g.59566583T>C | NCBI36 |
| NG_007969.1:g.13693A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301645.4:c.*5A>G MANE Select | ENSP00000301645.3:n.*5A>G | |
| ENST00000301645.3:c.*5A>G | ENSP00000301645.3:n.*5A>G | |
| NM_000780.3:c.*5A>G | NP_000771.2:n.*5A>G | |
| XM_011517476.1:c.*5A>G | XP_011515778.1:n.*5A>G | |
| NM_000780.4:c.*5A>G MANE Select | NP_000771.2:n.*5A>G |