Linked Data
dbSNP Id:
rs760363082
ExAC:
10:96748811 C / A
gnomAD v2:
10-96748811-C-A
gnomAD v4:
10-94989054-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989054C>A , CM000672.2:g.94989054C>A | GRCh38 |
| NC_000010.10:g.96748811C>A , CM000672.1:g.96748811C>A | GRCh37 |
| NC_000010.9:g.96738801C>A | NCBI36 |
| NG_008385.1:g.55397C>A | |
| NG_008385.2:g.55897C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.*26C>A MANE Select | ENSP00000260682.6:n.*26C>A | |
| ENST00000643112.1:c.*508C>A | ENSP00000496202.1:n.*508C>A | |
| ENST00000260682.6:c.*26C>A | ENSP00000260682.6:n.*26C>A | |
| NM_000771.3:c.*26C>A | NP_000762.2:n.*26C>A | |
| NM_000771.4:c.*26C>A MANE Select | NP_000762.2:n.*26C>A |