Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191849T>G , CM000670.2:g.23191849T>G | GRCh38 |
| NC_000008.10:g.23049362T>G , CM000670.1:g.23049362T>G | GRCh37 |
| NC_000008.9:g.23105307T>G | NCBI36 |
| NG_032107.1:g.38319A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1252A>C MANE Select | ENSP00000221132.3:p.Lys418Gln | |
| ENST00000221132.7:c.1252A>C | ENSP00000221132.3:p.Lys418Gln | |
| ENST00000519862.1:n.307A>C | ||
| ENST00000613472.1:c.778A>C | ENSP00000480778.1:p.Lys260Gln | |
| NM_003844.3:c.1252A>C | NP_003835.3:p.Lys418Gln | |
| NM_003844.4:c.1252A>C MANE Select | NP_003835.3:p.Lys418Gln |