Linked Data
ClinVar Variation Id:
705010
ClinVar RCV Id:
RCV001430463
dbSNP Id:
rs749264810
ExAC:
16:81391436 G / A
gnomAD v2:
16-81391436-G-A
gnomAD v3:
16-81357831-G-A
gnomAD v4:
16-81357831-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357831G>A , CM000678.2:g.81357831G>A | GRCh38 |
| NC_000016.9:g.81391436G>A , CM000678.1:g.81391436G>A | GRCh37 |
| NC_000016.8:g.79948937G>A | NCBI36 |
| NG_009007.1:g.47866G>A , LRG_242:g.47866G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*581G>A | ENSP00000498114.1:n.*581G>A | |
| ENST00000648994.2:c.873G>A MANE Select | ENSP00000497351.1:p.Ala291= | |
| ENST00000650388.1:c.407G>A | ENSP00000498081.1:n.407G>A | |
| ENST00000568107.2:c.873G>A | ENSP00000476795.1:p.Ala291= | |
| NM_022041.3:c.873G>A , LRG_242t1:c.873G>A | NP_071324.1:p.Ala291= | |
| XM_017023734.1:c.234G>A | XP_016879223.1:p.Ala78= | |
| NM_001377486.1:c.234G>A | NP_001364415.1:p.Ala78= | |
| NM_022041.4:c.873G>A MANE Select | NP_071324.1:p.Ala291= |