Linked Data
ClinVar Variation Id:
863477
dbSNP Id:
rs200342055
ExAC:
16:81398969 C / T
gnomAD v2:
16-81398969-C-T
gnomAD v3:
16-81365364-C-T
gnomAD v4:
16-81365364-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365364C>T , CM000678.2:g.81365364C>T | GRCh38 |
| NC_000016.9:g.81398969C>T , CM000678.1:g.81398969C>T | GRCh37 |
| NC_000016.8:g.79956470C>T | NCBI36 |
| NG_009007.1:g.55399C>T , LRG_242:g.55399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1096C>T | ENSP00000498114.1:n.*1096C>T | |
| ENST00000648994.2:c.1388C>T MANE Select | ENSP00000497351.1:p.Ala463Val | |
| ENST00000650388.1:c.922C>T | ENSP00000498081.1:n.922C>T | |
| ENST00000568107.2:c.1388C>T | ENSP00000476795.1:p.Ala463Val | |
| NM_022041.3:c.1388C>T , LRG_242t1:c.1388C>T | NP_071324.1:p.Ala463Val | |
| XM_017023734.1:c.749C>T | XP_016879223.1:p.Ala250Val | |
| NM_001377486.1:c.749C>T | NP_001364415.1:p.Ala250Val | |
| NM_022041.4:c.1388C>T MANE Select | NP_071324.1:p.Ala463Val |