Linked Data
dbSNP Id:
rs771969708
ExAC:
10:115805070 C / G
gnomAD v2:
10-115805070-C-G
gnomAD v4:
10-114045311-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045311C>G , CM000672.2:g.114045311C>G | GRCh38 |
| NC_000010.10:g.115805070C>G , CM000672.1:g.115805070C>G | GRCh37 |
| NC_000010.9:g.115795060C>G | NCBI36 |
| NG_012187.1:g.6265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1179C>G MANE Select | ENSP00000358301.2:p.Cys393Trp | |
| ENST00000369295.3:c.1179C>G | ENSP00000358301.2:p.Cys393Trp | |
| NM_000684.2:c.1179C>G | NP_000675.1:p.Cys393Trp | |
| NM_000684.3:c.1179C>G MANE Select | NP_000675.1:p.Cys393Trp |