Linked Data
dbSNP Id:
rs768811340
ExAC:
10:115804122 G / C
gnomAD v2:
10-115804122-G-C
gnomAD v4:
10-114044363-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044363G>C , CM000672.2:g.114044363G>C | GRCh38 |
| NC_000010.10:g.115804122G>C , CM000672.1:g.115804122G>C | GRCh37 |
| NC_000010.9:g.115794112G>C | NCBI36 |
| NG_012187.1:g.5317G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.231G>C MANE Select | ENSP00000358301.2:p.Val77= | |
| ENST00000369295.3:c.231G>C | ENSP00000358301.2:p.Val77= | |
| NM_000684.2:c.231G>C | NP_000675.1:p.Val77= | |
| NM_000684.3:c.231G>C MANE Select | NP_000675.1:p.Val77= |