Linked Data
ClinVar Variation Id:
551912
ClinVar RCV Id:
RCV000667082
dbSNP Id:
rs201895089
gnomAD v4:
13-20189605-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189605T>C , CM000675.2:g.20189605T>C | GRCh38 |
| NC_000013.10:g.20763744T>C , CM000675.1:g.20763744T>C | GRCh37 |
| NC_000013.9:g.19661744T>C | NCBI36 |
| NG_008358.1:g.8371A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.-24A>G | ENSP00000372295.1:n.-24A>G | |
| ENST00000382848.5:c.-22-2A>G MANE Select | ENSP00000372299.4:n.-22-2A>G | |
| ENST00000382844.1:c.-24A>G | ENSP00000372295.1:n.-24A>G | |
| ENST00000382848.4:c.-22-2A>G | ENSP00000372299.4:n.-22-2A>G | |
| NM_004004.5:c.-22-2A>G | NP_003995.2:n.-22-2A>G | |
| XM_011535049.1:c.-22-2A>G | XP_011533351.1:n.-22-2A>G | |
| XM_011535049.2:c.-22-2A>G | XP_011533351.1:n.-22-2A>G | |
| NM_004004.6:c.-22-2A>G MANE Select | NP_003995.2:n.-22-2A>G |