Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454425G>C , CM000679.2:g.7454425G>C | GRCh38 |
| NC_000017.10:g.7357744G>C , CM000679.1:g.7357744G>C | GRCh37 |
| NC_000017.9:g.7298468G>C | NCBI36 |
| NG_008026.1:g.14339G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.949G>C MANE Select | ENSP00000304290.2:p.Val317Leu | |
| ENST00000306071.6:c.949G>C | ENSP00000304290.2:p.Val317Leu | |
| ENST00000536404.6:c.733G>C | ENSP00000439209.2:p.Val245Leu | |
| ENST00000570557.5:c.612G>C | ||
| ENST00000573209.1:n.1893G>C | ||
| ENST00000576360.1:c.605-19G>C | ENSP00000459092.1:n.605-19G>C | |
| NM_000747.2:c.949G>C | NP_000738.2:p.Val317Leu | |
| NM_000747.3:c.949G>C MANE Select | NP_000738.2:p.Val317Leu |