Linked Data
dbSNP Id:
rs1399692901
gnomAD v2:
17-14112043-G-A
gnomAD v3:
17-14208726-G-A
gnomAD v4:
17-14208726-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208726G>A , CM000679.2:g.14208726G>A | GRCh38 |
| NC_000017.10:g.14112043G>A , CM000679.1:g.14112043G>A | GRCh37 |
| NC_000017.9:g.14052768G>A | NCBI36 |
| NG_008034.1:g.144325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*228G>A | ENSP00000499396.1:n.*228G>A | |
| ENST00000670279.1:c.929-783G>A | ENSP00000499450.1:n.929-783G>A | |
| XR_933974.1:n.1032-783G>A |