Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525137G>C , CM000681.2:g.7525137G>C | GRCh38 |
| NC_000019.9:g.7590023G>C , CM000681.1:g.7590023G>C | GRCh37 |
| NC_000019.8:g.7496023G>C | NCBI36 |
| NG_015806.1:g.7528G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.208G>C MANE Select | ENSP00000264079.5:p.Val70Leu | |
| ENST00000264079.10:c.208G>C | ENSP00000264079.5:p.Val70Leu | |
| ENST00000394321.9:n.288G>C | ||
| ENST00000596390.1:n.324G>C | ||
| ENST00000601003.1:c.208G>C | ENSP00000469074.1:p.Val70Leu | |
| NM_020533.2:c.208G>C | NP_065394.1:p.Val70Leu | |
| NM_020533.3:c.208G>C MANE Select | NP_065394.1:p.Val70Leu |