Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18121926A>C , CM000668.2:g.18121926A>C | GRCh38 |
| NC_000006.11:g.18122157A>C , CM000668.1:g.18122157A>C | GRCh37 |
| NC_000006.10:g.18230136A>C | NCBI36 |
| NG_016750.1:g.5695T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.681T>G MANE Select | ENSP00000345464.3:p.Asn227Lys | |
| ENST00000340650.4:c.681T>G | ENSP00000345464.3:p.Asn227Lys | |
| NM_198586.2:c.681T>G | NP_940988.2:p.Asn227Lys | |
| NM_198586.3:c.681T>G MANE Select | NP_940988.2:p.Asn227Lys |