Linked Data
ClinVar Variation Id:
362449
ClinVar RCV Id:
RCV000314390
dbSNP Id:
rs17091815
gnomAD v2:
8-19824604-A-T
gnomAD v3:
8-19967093-A-T
gnomAD v4:
8-19967093-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967093A>T , CM000670.2:g.19967093A>T | GRCh38 |
| NC_000008.10:g.19824604A>T , CM000670.1:g.19824604A>T | GRCh37 |
| NC_000008.9:g.19868884A>T | NCBI36 |
| NG_008855.1:g.33023A>T | |
| NG_008855.2:g.70377A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1783A>T MANE Select | ENSP00000497642.1:n.*1783A>T | |
| ENST00000650478.1:c.2151A>T | ENSP00000497560.1:n.2151A>T | |
| ENST00000311322.8:c.*1783A>T | ENSP00000309757.6:n.*1783A>T | |
| NM_000237.2:c.*1783A>T | NP_000228.1:n.*1783A>T | |
| NM_000237.3:c.*1783A>T MANE Select | NP_000228.1:n.*1783A>T |