Linked Data
ClinVar Variation Id:
284172
dbSNP Id:
rs376663785
ExAC:
3:33093481 A / C
gnomAD v2:
3-33093481-A-C
gnomAD v3:
3-33051989-A-C
gnomAD v4:
3-33051989-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33051989A>C , CM000665.2:g.33051989A>C | GRCh38 |
| NC_000003.11:g.33093481A>C , CM000665.1:g.33093481A>C | GRCh37 |
| NC_000003.10:g.33068485A>C | NCBI36 |
| NG_009005.1:g.50214T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307363.10:c.808T>G MANE Select | ENSP00000306920.4:p.Tyr270Asp | |
| ENST00000307363.9:c.808T>G | ENSP00000306920.4:p.Tyr270Asp | |
| ENST00000307377.12:c.415T>G | ENSP00000305920.8:p.Tyr139Asp | |
| ENST00000399402.7:c.718T>G | ENSP00000382333.2:p.Tyr240Asp | |
| ENST00000415454.1:c.331T>G | ENSP00000411813.1:p.Tyr111Asp | |
| ENST00000438227.1:c.*300T>G | ENSP00000401250.1:n.*300T>G | |
| ENST00000446732.5:c.*251T>G | ENSP00000407365.1:n.*251T>G | |
| ENST00000482097.5:n.183T>G | ||
| ENST00000485698.5:n.211T>G | ||
| ENST00000498537.5:n.334T>G | ||
| NM_000404.2:c.808T>G | NP_000395.2:p.Tyr270Asp | |
| NM_000404.3:c.808T>G | NP_000395.2:p.Tyr270Asp | |
| NM_001079811.1:c.718T>G | NP_001073279.1:p.Tyr240Asp | |
| NM_001079811.2:c.718T>G | NP_001073279.1:p.Tyr240Asp | |
| NM_001135602.1:c.415T>G | NP_001129074.1:p.Tyr139Asp | |
| NM_001135602.2:c.415T>G | NP_001129074.1:p.Tyr139Asp | |
| NM_001317040.1:c.952T>G | NP_001303969.1:p.Tyr318Asp | |
| NM_000404.4:c.808T>G MANE Select | NP_000395.3:p.Tyr270Asp | |
| NM_001079811.3:c.718T>G | NP_001073279.2:p.Tyr240Asp | |
| NM_001135602.3:c.415T>G | NP_001129074.2:p.Tyr139Asp | |
| NM_001317040.2:c.952T>G | NP_001303969.2:p.Tyr318Asp | |
| NM_001393580.1:c.808T>G | NP_001380509.1:p.Tyr270Asp |