Linked Data
dbSNP Id:
rs776992052
ExAC:
10:96522539 G / C
gnomAD v2:
10-96522539-G-C
gnomAD v4:
10-94762782-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762782G>C , CM000672.2:g.94762782G>C | GRCh38 |
| NC_000010.10:g.96522539G>C , CM000672.1:g.96522539G>C | GRCh37 |
| NC_000010.9:g.96512529G>C | NCBI36 |
| NG_008384.2:g.5077G>C | |
| NG_008384.3:g.5102G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.77G>C MANE Select | ENSP00000360372.3:p.Arg26Thr | |
| ENST00000371321.7:c.77G>C | ENSP00000360372.3:p.Arg26Thr | |
| ENST00000464755.1:c.932-12276G>C | ENSP00000483243.1:n.932-12276G>C | |
| ENST00000480405.2:c.77G>C | ENSP00000483847.1:p.Arg26Thr | |
| NM_000769.2:c.77G>C | NP_000760.1:p.Arg26Thr | |
| NM_000769.4:c.77G>C MANE Select | NP_000760.1:p.Arg26Thr |