Linked Data
gnomAD v4:
22-37768089-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37768089A>G , CM000684.2:g.37768089A>G | GRCh38 |
| NC_000022.10:g.38164096A>G , CM000684.1:g.38164096A>G | GRCh37 |
| NC_000022.9:g.36494042A>G | NCBI36 |
| NG_012857.1:g.76102A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.6488A>G MANE Select | ENSP00000496394.1:p.Lys2163Arg | |
| ENST00000344404.10:c.*5971A>G | ENSP00000340312.6:n.*5971A>G | |
| ENST00000403663.6:c.1349A>G | ENSP00000386026.2:p.Lys450Arg | |
| ENST00000406386.7:c.6488A>G | ENSP00000384312.3:p.Lys2163Arg | |
| NM_001039141.2:c.6488A>G | NP_001034230.1:p.Lys2163Arg | |
| NM_007032.5:c.1349A>G | NP_008963.3:p.Lys450Arg | |
| NM_001039141.3:c.6488A>G MANE Select | NP_001034230.1:p.Lys2163Arg |