Linked Data
ClinVar Variation Id:
1036711
ClinVar RCV Id:
RCV001339759
dbSNP Id:
rs200384647
ExAC:
8:55540280 T / G
gnomAD v2:
8-55540280-T-G
gnomAD v3:
8-54627720-T-G
gnomAD v4:
8-54627720-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627720T>G , CM000670.2:g.54627720T>G | GRCh38 |
| NC_000008.10:g.55540280T>G , CM000670.1:g.55540280T>G | GRCh37 |
| NC_000008.9:g.55702833T>G | NCBI36 |
| NG_009840.1:g.16654T>G | |
| NG_009840.2:g.16654T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.3838T>G MANE Select | ENSP00000220676.1:p.Phe1280Val | |
| ENST00000636932.1:c.787+5432T>G | ENSP00000489857.1:n.787+5432T>G | |
| ENST00000637698.1:c.787+5432T>G | ENSP00000490104.1:n.787+5432T>G | |
| ENST00000220676.1:c.3838T>G | ENSP00000220676.1:p.Phe1280Val | |
| NM_006269.1:c.3838T>G | NP_006260.1:p.Phe1280Val | |
| XM_017013721.1:c.3859T>G | XP_016869210.1:p.Phe1287Val | |
| XM_017013722.1:c.3838T>G | XP_016869211.1:p.Phe1280Val | |
| NM_001375654.1:c.787+5432T>G | NP_001362583.1:n.787+5432T>G | |
| NM_006269.2:c.3838T>G MANE Select | NP_006260.1:p.Phe1280Val |