Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191863A>G , CM000670.2:g.23191863A>G | GRCh38 |
| NC_000008.10:g.23049376A>G , CM000670.1:g.23049376A>G | GRCh37 |
| NC_000008.9:g.23105321A>G | NCBI36 |
| NG_032107.1:g.38305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1238T>C MANE Select | ENSP00000221132.3:p.Met413Thr | |
| ENST00000221132.7:c.1238T>C | ENSP00000221132.3:p.Met413Thr | |
| ENST00000519862.1:n.293T>C | ||
| ENST00000613472.1:c.764T>C | ENSP00000480778.1:p.Met255Thr | |
| NM_003844.3:c.1238T>C | NP_003835.3:p.Met413Thr | |
| NM_003844.4:c.1238T>C MANE Select | NP_003835.3:p.Met413Thr |