Linked Data
ClinVar Variation Id:
2752456
ClinVar RCV Id:
RCV003504809
dbSNP Id:
rs770267159
ExAC:
16:81391549 G / A
gnomAD v2:
16-81391549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357944G>A , CM000678.2:g.81357944G>A | GRCh38 |
| NC_000016.9:g.81391549G>A , CM000678.1:g.81391549G>A | GRCh37 |
| NC_000016.8:g.79949050G>A | NCBI36 |
| NG_009007.1:g.47979G>A , LRG_242:g.47979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*681+13G>A | ENSP00000498114.1:n.*681+13G>A | |
| ENST00000648994.2:c.973+13G>A MANE Select | ENSP00000497351.1:n.973+13G>A | |
| ENST00000650388.1:c.507+13G>A | ENSP00000498081.1:n.507+13G>A | |
| ENST00000568107.2:c.973+13G>A | ENSP00000476795.1:n.973+13G>A | |
| NM_022041.3:c.973+13G>A , LRG_242t1:c.973+13G>A | NP_071324.1:n.973+13G>A | |
| XM_017023734.1:c.334+13G>A | XP_016879223.1:n.334+13G>A | |
| NM_001377486.1:c.334+13G>A | NP_001364415.1:n.334+13G>A | |
| NM_022041.4:c.973+13G>A MANE Select | NP_071324.1:n.973+13G>A |