Linked Data
dbSNP Id:
rs2230229
ExAC:
8:23049292 C / T
gnomAD v2:
8-23049292-C-T
gnomAD v3:
8-23191779-C-T
gnomAD v4:
8-23191779-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191779C>T , CM000670.2:g.23191779C>T | GRCh38 |
| NC_000008.10:g.23049292C>T , CM000670.1:g.23049292C>T | GRCh37 |
| NC_000008.9:g.23105237C>T | NCBI36 |
| NG_032107.1:g.38389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1322G>A MANE Select | ENSP00000221132.3:p.Arg441Lys | |
| ENST00000221132.7:c.1322G>A | ENSP00000221132.3:p.Arg441Lys | |
| ENST00000613472.1:c.848G>A | ENSP00000480778.1:p.Arg283Lys | |
| NM_003844.3:c.1322G>A | NP_003835.3:p.Arg441Lys | |
| NM_003844.4:c.1322G>A MANE Select | NP_003835.3:p.Arg441Lys |