Linked Data
dbSNP Id:
rs758750288
ExAC:
17:67249848 G / A
gnomAD v2:
17-67249848-G-A
gnomAD v3:
17-69253707-G-A
gnomAD v4:
17-69253707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69253707G>A , CM000679.2:g.69253707G>A | GRCh38 |
| NC_000017.10:g.67249848G>A , CM000679.1:g.67249848G>A | GRCh37 |
| NC_000017.9:g.64761443G>A | NCBI36 |
| NG_034199.1:g.78476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392676.8:c.4321-40C>T MANE Select | ENSP00000376443.2:n.4321-40C>T | |
| ENST00000392676.7:c.4321-40C>T | ENSP00000376443.2:n.4321-40C>T | |
| ENST00000586811.1:c.1219-40C>T | ENSP00000465351.1:n.1219-40C>T | |
| ENST00000586995.5:c.3383-40C>T | ENSP00000467251.1:n.3383-40C>T | |
| ENST00000588877.5:c.4321-40C>T | ENSP00000467882.1:n.4321-40C>T | |
| ENST00000591234.5:c.2263-40C>T | ENSP00000465766.1:n.2263-40C>T | |
| NM_018672.4:c.4321-40C>T | NP_061142.2:n.4321-40C>T | |
| NM_172232.3:c.4321-40C>T | NP_758424.1:n.4321-40C>T | |
| NM_172232.4:c.4321-40C>T MANE Select | NP_758424.1:n.4321-40C>T | |
| NM_018672.5:c.4321-40C>T | NP_061142.2:n.4321-40C>T |