Linked Data
dbSNP Id:
rs1299680812
gnomAD v2:
8-19824444-C-T
gnomAD v3:
8-19966933-C-T
gnomAD v4:
8-19966933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966933C>T , CM000670.2:g.19966933C>T | GRCh38 |
| NC_000008.10:g.19824444C>T , CM000670.1:g.19824444C>T | GRCh37 |
| NC_000008.9:g.19868724C>T | NCBI36 |
| NG_008855.1:g.32863C>T | |
| NG_008855.2:g.70217C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.*1623C>T MANE Select | ENSP00000497642.1:n.*1623C>T | |
| ENST00000650478.1:c.1991C>T | ENSP00000497560.1:n.1991C>T | |
| ENST00000311322.8:c.*1623C>T | ENSP00000309757.6:n.*1623C>T | |
| NM_000237.2:c.*1623C>T | NP_000228.1:n.*1623C>T | |
| NM_000237.3:c.*1623C>T MANE Select | NP_000228.1:n.*1623C>T |