Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063571A>T , CM000663.2:g.55063571A>T | GRCh38 |
| NC_000001.10:g.55529244A>T , CM000663.1:g.55529244A>T | GRCh37 |
| NC_000001.9:g.55301832A>T | NCBI36 |
| NG_009061.1:g.29025A>T , LRG_275:g.29025A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*406A>T | ENSP00000501161.2:n.*406A>T | |
| ENST00000710286.1:c.2423A>T | ENSP00000518176.1:p.Gln808Leu | |
| ENST00000673903.1:c.1691A>T | ENSP00000501257.1:p.Gln564Leu | |
| ENST00000302118.5:c.2066A>T MANE Select | ENSP00000303208.5:p.Gln689Leu | |
| ENST00000490692.1:n.2612A>T | ||
| NM_174936.3:c.2066A>T , LRG_275t1:c.2066A>T | NP_777596.2:p.Gln689Leu | |
| NR_110451.1:n.1673A>T | ||
| XM_011541193.1:c.1187A>T | XP_011539495.1:p.Gln396Leu | |
| NM_174936.4:c.2066A>T MANE Select | NP_777596.2:p.Gln689Leu | |
| NR_110451.2:n.1673A>T |