Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154750G>C , CM000681.2:g.55154750G>C | GRCh38 |
| NC_000019.9:g.55666118G>C , CM000681.1:g.55666118G>C | GRCh37 |
| NC_000019.8:g.60357930G>C | NCBI36 |
| NG_007866.2:g.7983C>G , LRG_432:g.7983C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.363C>G MANE Select | ENSP00000341838.5:p.Asn121Lys | |
| ENST00000665070.1:c.363C>G | ENSP00000499482.1:p.Asn121Lys | |
| ENST00000344887.9:c.363C>G | ENSP00000341838.5:p.Asn121Lys | |
| ENST00000585806.5:n.362C>G | ||
| ENST00000586669.5:n.371C>G | ||
| ENST00000587176.5:n.547C>G | ||
| ENST00000588882.1:c.288C>G | ENSP00000466729.1:p.Asn96Lys | |
| ENST00000590463.1:n.535C>G | ||
| NM_000363.4:c.363C>G , LRG_432t1:c.363C>G | NP_000354.4:p.Asn121Lys | |
| NM_000363.5:c.363C>G MANE Select | NP_000354.4:p.Asn121Lys |