Linked Data
dbSNP Id:
rs1343315857
gnomAD v2:
10-135186868-G-A
gnomAD v3:
10-133373364-G-A
gnomAD v4:
10-133373364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373364G>A , CM000672.2:g.133373364G>A | GRCh38 |
| NC_000010.10:g.135186868G>A , CM000672.1:g.135186868G>A | GRCh37 |
| NC_000010.9:g.135036858G>A | NCBI36 |
| NG_042077.1:g.5041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.3:c.-31C>T | ENSP00000357535.3:n.-31C>T | |
| NM_004092.3:c.-31C>T | NP_004083.3:n.-31C>T | |
| XR_002956965.1:n.33C>T |