Linked Data
ClinVar Variation Id:
421050
dbSNP Id:
rs587782366
gnomAD v3:
16-68738294-C-A
gnomAD v4:
16-68738294-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738294C>A , CM000678.2:g.68738294C>A | GRCh38 |
| NC_000016.9:g.68772197C>A , CM000678.1:g.68772197C>A | GRCh37 |
| NC_000016.8:g.67329698C>A | NCBI36 |
| NG_008021.1:g.6003C>A , LRG_301:g.6003C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.49-3C>A MANE Select | ENSP00000261769.4:n.49-3C>A | |
| ENST00000261769.9:c.49-3C>A | ENSP00000261769.4:n.49-3C>A | |
| ENST00000422392.6:c.49-3C>A | ENSP00000414946.2:n.49-3C>A | |
| ENST00000566510.5:c.49-3C>A | ENSP00000458139.1:n.49-3C>A | |
| ENST00000566612.5:c.49-3C>A | ENSP00000454782.1:n.49-3C>A | |
| ENST00000611625.4:c.49-3C>A | ENSP00000481063.1:n.49-3C>A | |
| ENST00000612417.4:c.49-3C>A | ENSP00000478360.1:n.49-3C>A | |
| ENST00000621016.4:c.49-3C>A | ENSP00000480664.1:n.49-3C>A | |
| NM_004360.3:c.49-3C>A , LRG_301t1:c.49-3C>A | NP_004351.1:n.49-3C>A | |
| NM_001317184.1:c.49-3C>A | NP_001304113.1:n.49-3C>A | |
| NM_001317185.1:c.-1567-3C>A | NP_001304114.1:n.-1567-3C>A | |
| NM_001317186.1:c.-1771-3C>A | NP_001304115.1:n.-1771-3C>A | |
| NM_004360.4:c.49-3C>A | NP_004351.1:n.49-3C>A | |
| NM_004360.5:c.49-3C>A MANE Select | NP_004351.1:n.49-3C>A | |
| NM_001317184.2:c.49-3C>A | NP_001304113.1:n.49-3C>A | |
| NM_001317185.2:c.-1567-3C>A | NP_001304114.1:n.-1567-3C>A | |
| NM_001317186.2:c.-1771-3C>A | NP_001304115.1:n.-1771-3C>A |