Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899383A>G , CM000679.2:g.4899383A>G | GRCh38 |
| NC_000017.10:g.4802678A>G , CM000679.1:g.4802678A>G | GRCh37 |
| NC_000017.9:g.4743457A>G | NCBI36 |
| NG_008029.2:g.8693T>C | |
| NG_028005.1:g.71044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1034T>C MANE Select | ENSP00000497829.1:p.Val345Ala | |
| ENST00000649830.1:c.101T>C | ENSP00000496907.1:p.Val34Ala | |
| ENST00000652550.1:n.764T>C | ||
| ENST00000293780.4:c.1034T>C | ENSP00000293780.4:p.Val345Ala | |
| ENST00000572438.1:n.720T>C | ||
| NM_000080.3:c.1034T>C | NP_000071.1:p.Val345Ala | |
| NM_000080.4:c.1034T>C MANE Select | NP_000071.1:p.Val345Ala | |
| XM_017024115.1:c.998T>C | XP_016879604.1:p.Val333Ala | |
| XR_001752421.1:n.1764T>C |