Linked Data
ClinVar Variation Id:
368676
ClinVar RCV Id:
RCV000279917
dbSNP Id:
rs770782241
gnomAD v2:
X-79287143-A-T
gnomAD v3:
X-80031644-A-T
gnomAD v4:
X-80031644-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80031644A>T , CM000685.2:g.80031644A>T | GRCh38 |
| NC_000023.10:g.79287143A>T , CM000685.1:g.79287143A>T | GRCh37 |
| NC_000023.9:g.79173799A>T | NCBI36 |
| NG_008998.1:g.21889A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373296.8:c.*533A>T MANE Select | ENSP00000362393.3:n.*533A>T | |
| ENST00000373294.8:c.*533A>T | ENSP00000362390.5:n.*533A>T | |
| ENST00000373296.7:c.*533A>T | ENSP00000362393.3:n.*533A>T | |
| ENST00000626877.1:n.1975A>T | ||
| NM_001109878.1:c.*533A>T | NP_001103348.1:n.*533A>T | |
| NM_001109879.1:c.*533A>T | NP_001103349.1:n.*533A>T | |
| NM_001303475.1:c.*533A>T | NP_001290404.1:n.*533A>T | |
| NM_016954.2:c.*533A>T | NP_058650.1:n.*533A>T | |
| XM_005262136.2:c.*533A>T | XP_005262193.1:n.*533A>T | |
| XM_006724657.2:c.953-1320A>T | XP_006724720.1:n.953-1320A>T | |
| XM_011530972.1:c.*533A>T | XP_011529274.1:n.*533A>T | |
| NM_001109878.2:c.*533A>T MANE Select | NP_001103348.1:n.*533A>T | |
| NM_001109879.2:c.*533A>T | NP_001103349.1:n.*533A>T |