Linked Data
dbSNP Id:
rs745887191
ExAC:
10:115805060 T / C
gnomAD v2:
10-115805060-T-C
gnomAD v4:
10-114045301-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045301T>C , CM000672.2:g.114045301T>C | GRCh38 |
| NC_000010.10:g.115805060T>C , CM000672.1:g.115805060T>C | GRCh37 |
| NC_000010.9:g.115795050T>C | NCBI36 |
| NG_012187.1:g.6255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1169T>C MANE Select | ENSP00000358301.2:p.Leu390Pro | |
| ENST00000369295.3:c.1169T>C | ENSP00000358301.2:p.Leu390Pro | |
| NM_000684.2:c.1169T>C | NP_000675.1:p.Leu390Pro | |
| NM_000684.3:c.1169T>C MANE Select | NP_000675.1:p.Leu390Pro |