Linked Data
ClinVar Variation Id:
1350429
dbSNP Id:
rs1909002019
gnomAD v3:
17-7454509-T-G
gnomAD v4:
17-7454509-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454509T>G , CM000679.2:g.7454509T>G | GRCh38 |
| NC_000017.10:g.7357828T>G , CM000679.1:g.7357828T>G | GRCh37 |
| NC_000017.9:g.7298552T>G | NCBI36 |
| NG_008026.1:g.14423T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1033T>G MANE Select | ENSP00000304290.2:p.Trp345Gly | |
| ENST00000306071.6:c.1033T>G | ENSP00000304290.2:p.Trp345Gly | |
| ENST00000536404.6:c.817T>G | ENSP00000439209.2:p.Trp273Gly | |
| ENST00000570557.5:c.696T>G | ||
| ENST00000573209.1:n.1977T>G | ||
| ENST00000576360.1:c.670T>G | ENSP00000459092.1:p.Trp224Gly | |
| NM_000747.2:c.1033T>G | NP_000738.2:p.Trp345Gly | |
| NM_000747.3:c.1033T>G MANE Select | NP_000738.2:p.Trp345Gly |