Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009079T>C , CM000676.2:g.75009079T>C | GRCh38 |
| NC_000014.8:g.75475782T>C , CM000676.1:g.75475782T>C | GRCh37 |
| NC_000014.7:g.74545535T>C | NCBI36 |
| NG_013333.1:g.11171T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266126.10:c.947T>C MANE Select | ENSP00000266126.5:p.Val316Ala | |
| ENST00000266126.9:c.947T>C | ENSP00000266126.5:p.Val316Ala | |
| ENST00000556668.1:n.527T>C | ||
| NM_014239.3:c.947T>C | NP_055054.1:p.Val316Ala | |
| NM_014239.4:c.947T>C MANE Select | NP_055054.1:p.Val316Ala |