Linked Data
dbSNP Id:
rs368083615
gnomAD v2:
6-32132148-A-G
gnomAD v3:
6-32164371-A-G
gnomAD v4:
6-32164371-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32164371A>G , CM000668.2:g.32164371A>G | GRCh38 |
| NC_000006.11:g.32132148A>G , CM000668.1:g.32132148A>G | GRCh37 |
| NC_000006.10:g.32240126A>G | NCBI36 |
| NG_042283.1:g.15920A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421600.2:c.225-208A>G | ||
| ENST00000422437.5:c.766-208A>G | ENSP00000457534.1:n.766-208A>G | |
| ENST00000428388.6:c.766-208A>G | ENSP00000455087.1:n.766-208A>G | |
| ENST00000453656.6:n.897-208A>G | ||
| ENST00000479001.2:n.751-208A>G | ||
| ENST00000583227.5:c.*318-208A>G | ENSP00000461909.1:n.*318-208A>G | |
| ENST00000585246.5:c.*317+1749A>G | ENSP00000463570.1:n.*317+1749A>G | |
| NR_037861.1:n.1180-208A>G |