Linked Data
dbSNP Id:
rs375267079
ExAC:
17:32583409 C / A
gnomAD v2:
17-32583409-C-A
gnomAD v4:
17-34256390-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256390C>A , CM000679.2:g.34256390C>A | GRCh38 |
| NC_000017.10:g.32583409C>A , CM000679.1:g.32583409C>A | GRCh37 |
| NC_000017.9:g.29607522C>A | NCBI36 |
| NG_012123.1:g.6114C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*47C>A | ENSP00000462156.1:n.*47C>A | |
| ENST00000624362.2:n.1106C>A | ||
| ENST00000225831.4:c.194+51C>A MANE Select | ENSP00000225831.4:n.194+51C>A | |
| ENST00000580907.5:c.*47C>A | ENSP00000462156.1:n.*47C>A | |
| ENST00000582017.1:n.183C>A | ||
| NM_002982.3:c.194+51C>A | NP_002973.1:n.194+51C>A | |
| NM_002982.4:c.194+51C>A MANE Select | NP_002973.1:n.194+51C>A |