Linked Data
ClinVar Variation Id:
1009077
dbSNP Id:
rs747942696
ExAC:
17:1554208 G / A
gnomAD v2:
17-1554208-G-A
gnomAD v3:
17-1650914-G-A
gnomAD v4:
17-1650914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650914G>A , CM000679.2:g.1650914G>A | GRCh38 |
| NC_000017.10:g.1554208G>A , CM000679.1:g.1554208G>A | GRCh37 |
| NC_000017.9:g.1500958G>A | NCBI36 |
| NG_009118.1:g.38969C>T | |
| NG_033061.1:g.4185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6716C>T | ENSP00000460849.2:p.Ala2239Val | |
| ENST00000703537.1:c.2644C>T | ||
| ENST00000703538.1:c.*6619C>T | ENSP00000515361.1:n.*6619C>T | |
| ENST00000703539.1:n.3210C>T | ||
| ENST00000703540.1:c.6749C>T | ENSP00000515362.1:p.Ala2250Val | |
| ENST00000703541.1:c.6761C>T | ENSP00000515363.1:p.Ala2254Val | |
| ENST00000304992.11:c.6896C>T MANE Select | ENSP00000304350.6:p.Ala2299Val | |
| ENST00000304992.10:c.6896C>T | ENSP00000304350.6:p.Ala2299Val | |
| ENST00000571958.1:c.163-68C>T | ||
| ENST00000572621.5:c.6896C>T | ENSP00000460348.1:p.Ala2299Val | |
| ENST00000572723.1:n.885C>T | ||
| NM_006445.3:c.6896C>T | NP_006436.3:p.Ala2299Val | |
| XM_024450537.1:c.6896C>T | XP_024306305.1:p.Ala2299Val | |
| NM_006445.4:c.6896C>T MANE Select | NP_006436.3:p.Ala2299Val |