Linked Data
dbSNP Id:
rs865978569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967077C>T , CM000670.2:g.19967077C>T | GRCh38 |
| NC_000008.10:g.19824588C>T , CM000670.1:g.19824588C>T | GRCh37 |
| NC_000008.9:g.19868868C>T | NCBI36 |
| NG_008855.1:g.33007C>T | |
| NG_008855.2:g.70361C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1767C>T MANE Select | ENSP00000497642.1:n.*1767C>T | |
| ENST00000650478.1:c.2135C>T | ENSP00000497560.1:n.2135C>T | |
| ENST00000311322.8:c.*1767C>T | ENSP00000309757.6:n.*1767C>T | |
| NM_000237.2:c.*1767C>T | NP_000228.1:n.*1767C>T | |
| NM_000237.3:c.*1767C>T MANE Select | NP_000228.1:n.*1767C>T |