Linked Data
dbSNP Id:
rs750000358
ExAC:
10:115804291 T / C
gnomAD v2:
10-115804291-T-C
gnomAD v4:
10-114044532-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044532T>C , CM000672.2:g.114044532T>C | GRCh38 |
| NC_000010.10:g.115804291T>C , CM000672.1:g.115804291T>C | GRCh37 |
| NC_000010.9:g.115794281T>C | NCBI36 |
| NG_012187.1:g.5486T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.400T>C MANE Select | ENSP00000358301.2:p.Trp134Arg | |
| ENST00000369295.3:c.400T>C | ENSP00000358301.2:p.Trp134Arg | |
| NM_000684.2:c.400T>C | NP_000675.1:p.Trp134Arg | |
| NM_000684.3:c.400T>C MANE Select | NP_000675.1:p.Trp134Arg |