Linked Data
ClinVar Variation Id:
211814
dbSNP Id:
rs61736585
ExAC:
11:66002806 C / T
gnomAD v2:
11-66002806-C-T
gnomAD v3:
11-66235335-C-T
gnomAD v4:
11-66235335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66235335C>T , CM000673.2:g.66235335C>T | GRCh38 |
| NC_000011.9:g.66002806C>T , CM000673.1:g.66002806C>T | GRCh37 |
| NC_000011.8:g.65759382C>T | NCBI36 |
| NG_033900.1:g.169983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.2139C>T MANE Select | ENSP00000316454.4:p.Tyr713= | |
| ENST00000676419.1:n.176C>T | ||
| ENST00000320580.8:c.2139C>T | ENSP00000316454.4:p.Tyr713= | |
| ENST00000529757.5:c.747C>T | ENSP00000432858.1:p.Tyr249= | |
| ENST00000529795.1:n.266C>T | ||
| NM_018026.3:c.2139C>T | NP_060496.2:p.Tyr713= | |
| XM_011545162.1:c.1818C>T | XP_011543464.1:p.Tyr606= | |
| XM_011545163.1:c.1809C>T | XP_011543465.1:p.Tyr603= | |
| XM_011545164.1:c.1800C>T | XP_011543466.1:p.Tyr600= | |
| XM_011545164.2:c.1800C>T | XP_011543466.1:p.Tyr600= | |
| NM_018026.4:c.2139C>T MANE Select | NP_060496.2:p.Tyr713= |