Linked Data
dbSNP Id:
rs769747104
ExAC:
21:45876604 G / C
gnomAD v2:
21-45876604-G-C
gnomAD v4:
21-44456721-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456721G>C , CM000683.2:g.44456721G>C | GRCh38 |
| NC_000021.8:g.45876604G>C , CM000683.1:g.45876604G>C | GRCh37 |
| NC_000021.7:g.44701032G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.77G>C MANE Select | ENSP00000291592.4:p.Cys26Ser | |
| ENST00000291592.5:c.77G>C | ENSP00000291592.4:p.Cys26Ser | |
| NM_030891.4:c.77G>C | NP_112153.1:p.Cys26Ser | |
| NM_030891.5:c.77G>C | NP_112153.1:p.Cys26Ser | |
| NM_030891.6:c.77G>C MANE Select | NP_112153.1:p.Cys26Ser |