Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61865687T>C , CM000673.2:g.61865687T>C | GRCh38 |
| NC_000011.9:g.61633159T>C , CM000673.1:g.61633159T>C | GRCh37 |
| NC_000011.8:g.61389735T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.1333T>C MANE Select | ENSP00000278840.4:p.Ter445Arg | |
| ENST00000257261.10:c.1267T>C | ENSP00000257261.6:p.Ter423Arg | |
| ENST00000278840.8:c.1333T>C | ENSP00000278840.4:p.Ter445Arg | |
| ENST00000522056.5:c.1240T>C | ENSP00000429500.1:p.Ter414Arg | |
| ENST00000523235.5:n.3413T>C | ||
| NM_001281501.1:c.1267T>C | NP_001268430.1:p.Ter423Arg | |
| NM_001281502.1:c.1240T>C | NP_001268431.1:p.Ter414Arg | |
| NM_004265.3:c.1333T>C | NP_004256.1:p.Ter445Arg | |
| NM_004265.4:c.1333T>C MANE Select | NP_004256.1:p.Ter445Arg |