Linked Data
dbSNP Id:
rs761427707
ExAC:
11:118183558 T / G
gnomAD v2:
11-118183558-T-G
gnomAD v4:
11-118312843-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312843T>G , CM000673.2:g.118312843T>G | GRCh38 |
| NC_000011.9:g.118183558T>G , CM000673.1:g.118183558T>G | GRCh37 |
| NC_000011.8:g.117688768T>G | NCBI36 |
| NG_007383.1:g.13264T>G , LRG_38:g.13264T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.329T>G MANE Select | ENSP00000354566.4:p.Phe110Cys | |
| ENST00000361763.8:c.329T>G | ENSP00000354566.4:p.Phe110Cys | |
| ENST00000526146.5:n.875T>G | ||
| ENST00000528435.5:n.882T>G | ||
| ENST00000528600.1:c.311T>G | ENSP00000433975.1:p.Phe104Cys | |
| ENST00000529713.5:n.435T>G | ||
| ENST00000531913.1:n.700T>G | ||
| NM_000733.3:c.329T>G , LRG_38t1:c.329T>G | NP_000724.1:p.Phe110Cys | |
| NM_000733.4:c.329T>G MANE Select | NP_000724.1:p.Phe110Cys |