Linked Data
ClinVar Variation Id:
293887
ClinVar RCV Id:
RCV000311173
dbSNP Id:
rs77070600
gnomAD v2:
1-182351046-C-A
gnomAD v3:
1-182381911-C-A
gnomAD v4:
1-182381911-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182381911C>A , CM000663.2:g.182381911C>A | GRCh38 |
| NC_000001.10:g.182351046C>A , CM000663.1:g.182351046C>A | GRCh37 |
| NC_000001.9:g.180617669C>A | NCBI36 |
| NG_013347.2:g.15296G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331872.11:c.*2494G>T MANE Select | ENSP00000356537.6:n.*2494G>T | |
| ENST00000642379.1:c.*2494G>T | ENSP00000494022.1:n.*2494G>T | |
| ENST00000311223.9:c.*2494G>T | ENSP00000307900.5:n.*2494G>T | |
| ENST00000331872.10:c.*2494G>T | ENSP00000356537.5:n.*2494G>T | |
| ENST00000417584.6:c.*2494G>T | ENSP00000398320.2:n.*2494G>T | |
| NM_001033044.3:c.*2494G>T | NP_001028216.1:n.*2494G>T | |
| NM_001033056.3:c.*2494G>T | NP_001028228.1:n.*2494G>T | |
| NM_002065.6:c.*2494G>T | NP_002056.2:n.*2494G>T | |
| NM_001033044.4:c.*2494G>T MANE Select | NP_001028216.1:n.*2494G>T | |
| NM_001033056.4:c.*2494G>T | NP_001028228.1:n.*2494G>T | |
| NM_002065.7:c.*2494G>T | NP_002056.2:n.*2494G>T |