Linked Data
ClinVar Variation Id:
311698
ClinVar RCV Id:
RCV000295187
dbSNP Id:
rs564481
ExAC:
13:33634983 C / T
gnomAD v2:
13-33634983-C-T
gnomAD v3:
13-33060846-C-T
gnomAD v4:
13-33060846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33060846C>T , CM000675.2:g.33060846C>T | GRCh38 |
| NC_000013.10:g.33634983C>T , CM000675.1:g.33634983C>T | GRCh37 |
| NC_000013.9:g.32532983C>T | NCBI36 |
| NG_011485.1:g.49413C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.1767C>T MANE Select | ENSP00000369442.3:p.His589= | |
| ENST00000380099.3:c.1767C>T | ENSP00000369442.3:p.His589= | |
| ENST00000487852.1:n.1825C>T | ||
| NM_004795.3:c.1767C>T | NP_004786.2:p.His589= | |
| XM_006719895.1:c.846C>T | XP_006719958.1:p.His282= | |
| XM_006719895.2:c.846C>T | XP_006719958.1:p.His282= | |
| NM_004795.4:c.1767C>T MANE Select | NP_004786.2:p.His589= |