Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528248T>C , CM000681.2:g.7528248T>C | GRCh38 |
| NC_000019.9:g.7593134T>C , CM000681.1:g.7593134T>C | GRCh37 |
| NC_000019.8:g.7499134T>C | NCBI36 |
| NG_015806.1:g.10639T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.868T>C MANE Select | ENSP00000264079.5:p.Phe290Leu | |
| ENST00000264079.10:c.868T>C | ENSP00000264079.5:p.Phe290Leu | |
| ENST00000394321.9:n.1183T>C | ||
| NM_020533.2:c.868T>C | NP_065394.1:p.Phe290Leu | |
| NM_020533.3:c.868T>C MANE Select | NP_065394.1:p.Phe290Leu |