Linked Data
gnomAD v4:
17-34256388-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256388A>G , CM000679.2:g.34256388A>G | GRCh38 |
| NC_000017.10:g.32583407A>G , CM000679.1:g.32583407A>G | GRCh37 |
| NC_000017.9:g.29607520A>G | NCBI36 |
| NG_012123.1:g.6112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*45A>G | ENSP00000462156.1:n.*45A>G | |
| ENST00000624362.2:n.1104A>G | ||
| ENST00000225831.4:c.194+49A>G MANE Select | ENSP00000225831.4:n.194+49A>G | |
| ENST00000580907.5:c.*45A>G | ENSP00000462156.1:n.*45A>G | |
| ENST00000582017.1:n.181A>G | ||
| NM_002982.3:c.194+49A>G | NP_002973.1:n.194+49A>G | |
| NM_002982.4:c.194+49A>G MANE Select | NP_002973.1:n.194+49A>G |