Linked Data
gnomAD v4:
17-29534137-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29534137A>G , CM000679.2:g.29534137A>G | GRCh38 |
| NC_000017.10:g.27861155A>G , CM000679.1:g.27861155A>G | GRCh37 |
| NC_000017.9:g.24885281A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261716.8:c.2381A>G MANE Select | ENSP00000261716.3:p.Gln794Arg | |
| ENST00000261716.7:c.2381A>G | ENSP00000261716.3:p.Gln794Arg | |
| ENST00000536202.1:c.1937A>G | ENSP00000438819.1:p.Gln646Arg | |
| NM_020791.2:c.2381A>G | NP_065842.1:p.Gln794Arg | |
| NM_025142.1:c.1937A>G | NP_079418.1:p.Gln646Arg | |
| XM_011525060.1:c.2381A>G | XP_011523362.1:p.Gln794Arg | |
| XM_011525060.2:c.2381A>G | XP_011523362.1:p.Gln794Arg | |
| NM_020791.4:c.2381A>G MANE Select | NP_065842.1:p.Gln794Arg |