Linked Data
dbSNP Id:
rs912432299
gnomAD v3:
17-14208694-G-A
gnomAD v4:
17-14208694-G-A
COSMIC:
COSN1714047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208694G>A , CM000679.2:g.14208694G>A | GRCh38 |
| NC_000017.10:g.14112011G>A , CM000679.1:g.14112011G>A | GRCh37 |
| NC_000017.9:g.14052736G>A | NCBI36 |
| NG_008034.1:g.144293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*196G>A | ENSP00000499396.1:n.*196G>A | |
| ENST00000670279.1:c.929-815G>A | ENSP00000499450.1:n.929-815G>A | |
| XR_933974.1:n.1032-815G>A |