Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34856859A>T , CM000668.2:g.34856859A>T | GRCh38 |
| NC_000006.11:g.34824636A>T , CM000668.1:g.34824636A>T | GRCh37 |
| NC_000006.10:g.34932614A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017754.4:c.1361A>T MANE Select | NP_060224.3:p.Gln454Leu |
| ENST00000192788.6:c.1361A>T MANE Select | ENSP00000192788.5:p.Gln454Leu |
| NM_017754.3:c.1361A>T | NP_060224.3:p.Gln454Leu |
| ENST00000192788.5:c.1361A>T | ENSP00000192788.5:p.Gln454Leu |
| ENST00000452449.6:c.1361A>T | ENSP00000400628.2:p.Gln454Leu |
| XM_005249199.3:c.203A>T | XP_005249256.1:p.Gln68Leu |
| XM_006715126.2:c.1361A>T | XP_006715189.1:p.Gln454Leu |
| XM_011514714.1:c.1274A>T | XP_011513016.1:p.Gln425Leu |
| XM_011514715.1:c.365A>T | XP_011513017.1:p.Gln122Leu |