Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528245G>T , CM000681.2:g.7528245G>T | GRCh38 |
| NC_000019.9:g.7593131G>T , CM000681.1:g.7593131G>T | GRCh37 |
| NC_000019.8:g.7499131G>T | NCBI36 |
| NG_015806.1:g.10636G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.865G>T MANE Select | ENSP00000264079.5:p.Val289Phe | |
| ENST00000264079.10:c.865G>T | ENSP00000264079.5:p.Val289Phe | |
| ENST00000394321.9:n.1180G>T | ||
| NM_020533.2:c.865G>T | NP_065394.1:p.Val289Phe | |
| NM_020533.3:c.865G>T MANE Select | NP_065394.1:p.Val289Phe |