Linked Data
gnomAD v4:
17-34256165-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256165A>G , CM000679.2:g.34256165A>G | GRCh38 |
| NC_000017.10:g.32583184A>G , CM000679.1:g.32583184A>G | GRCh37 |
| NC_000017.9:g.29607297A>G | NCBI36 |
| NG_012123.1:g.5889A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580907.6:c.77-57A>G | ENSP00000462156.1:n.77-57A>G | |
| ENST00000624362.2:n.881A>G | ||
| ENST00000225831.4:c.77-57A>G MANE Select | ENSP00000225831.4:n.77-57A>G | |
| ENST00000580907.5:c.77-57A>G | ENSP00000462156.1:n.77-57A>G | |
| ENST00000624362.1:n.948A>G | ||
| NM_002982.3:c.77-57A>G | NP_002973.1:n.77-57A>G | |
| NM_002982.4:c.77-57A>G MANE Select | NP_002973.1:n.77-57A>G |