Linked Data
ClinVar Variation Id:
863261
ClinVar RCV Id:
RCV001070193
dbSNP Id:
rs746154353
ExAC:
16:81388022 G / A
gnomAD v2:
16-81388022-G-A
gnomAD v3:
16-81354417-G-A
gnomAD v4:
16-81354417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354417G>A , CM000678.2:g.81354417G>A | GRCh38 |
| NC_000016.9:g.81388022G>A , CM000678.1:g.81388022G>A | GRCh37 |
| NC_000016.8:g.79945523G>A | NCBI36 |
| NG_009007.1:g.44452G>A , LRG_242:g.44452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*3G>A | ENSP00000498114.1:n.*3G>A | |
| ENST00000648994.2:c.295G>A MANE Select | ENSP00000497351.1:p.Glu99Lys | |
| ENST00000650388.1:c.168-2368G>A | ENSP00000498081.1:n.168-2368G>A | |
| ENST00000674788.1:n.420G>A | ||
| ENST00000568107.2:c.295G>A | ENSP00000476795.1:p.Glu99Lys | |
| NM_022041.3:c.295G>A , LRG_242t1:c.295G>A | NP_071324.1:p.Glu99Lys | |
| XM_017023734.1:c.-345G>A | XP_016879223.1:n.-345G>A | |
| NM_001377486.1:c.-345G>A | NP_001364415.1:n.-345G>A | |
| NM_022041.4:c.295G>A MANE Select | NP_071324.1:p.Glu99Lys |