Linked Data
ClinVar Variation Id:
1413303
dbSNP Id:
rs119460973
gnomAD v2:
6-108395820-A-C
gnomAD v4:
6-108074616-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108074616A>C , CM000668.2:g.108074616A>C | GRCh38 |
| NC_000006.11:g.108395820A>C , CM000668.1:g.108395820A>C | GRCh37 |
| NC_000006.10:g.108502513A>C | NCBI36 |
| NG_007262.1:g.5122T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467960.2:c.36T>G | ENSP00000514449.1:p.Cys12Trp | |
| ENST00000492130.2:c.36T>G | ENSP00000514453.1:p.Cys12Trp | |
| ENST00000699569.1:c.36T>G | ENSP00000514443.1:p.Cys12Trp | |
| ENST00000699572.1:c.36T>G | ENSP00000514444.1:p.Cys12Trp | |
| ENST00000699573.1:c.36T>G | ENSP00000514445.1:p.Cys12Trp | |
| ENST00000699574.1:c.36T>G | ENSP00000514446.1:p.Cys12Trp | |
| ENST00000699575.1:c.36T>G | ENSP00000514447.1:p.Cys12Trp | |
| ENST00000699576.1:c.36T>G | ENSP00000514448.1:p.Cys12Trp | |
| ENST00000699577.1:c.36T>G | ENSP00000514450.1:p.Cys12Trp | |
| ENST00000699578.1:c.36T>G | ENSP00000514451.1:p.Cys12Trp | |
| ENST00000699579.1:c.36T>G | ENSP00000514452.1:p.Cys12Trp | |
| ENST00000699580.1:c.-40+443T>G | ENSP00000514454.1:n.-40+443T>G | |
| ENST00000699581.1:c.-39-10317T>G | ENSP00000514455.1:n.-39-10317T>G | |
| ENST00000699582.1:n.136T>G | ||
| ENST00000193322.8:c.36T>G MANE Select | ENSP00000193322.3:p.Cys12Trp | |
| ENST00000193322.7:c.36T>G | ENSP00000193322.3:p.Cys12Trp | |
| ENST00000440575.6:c.-39-10317T>G | ENSP00000398556.2:n.-39-10317T>G | |
| ENST00000467960.1:n.126T>G | ||
| NM_014028.3:c.36T>G | NP_054747.2:p.Cys12Trp | |
| XM_011535775.1:c.36T>G | XP_011534077.1:p.Cys12Trp | |
| XR_942410.1:n.119T>G | ||
| XR_942410.3:n.118T>G | ||
| NM_014028.4:c.36T>G MANE Select | NP_054747.2:p.Cys12Trp |