Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956026A>T , CM000670.2:g.19956026A>T | GRCh38 |
| NC_000008.10:g.19813537A>T , CM000670.1:g.19813537A>T | GRCh37 |
| NC_000008.9:g.19857817A>T | NCBI36 |
| NG_008855.1:g.21956A>T | |
| NG_008855.2:g.59310A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.961A>T MANE Select | ENSP00000497642.1:p.Arg321Ter | |
| ENST00000650478.1:c.22A>T | ENSP00000497560.1:p.Arg8Ter | |
| ENST00000311322.8:c.961A>T | ENSP00000309757.6:p.Arg321Ter | |
| NM_000237.2:c.961A>T | NP_000228.1:p.Arg321Ter | |
| NM_000237.3:c.961A>T MANE Select | NP_000228.1:p.Arg321Ter |