Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.26930036A>T , CM000683.2:g.26930036A>T | GRCh38 |
| NC_000021.8:g.28302355A>T , CM000683.1:g.28302355A>T | GRCh37 |
| NC_000021.7:g.27224226A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007038.5:c.2075T>A MANE Select | NP_008969.2:p.Leu692Gln |
| ENST00000284987.6:c.2075T>A MANE Select | ENSP00000284987.5:p.Leu692Gln |
| NM_007038.3:c.2075T>A | NP_008969.2:p.Leu692Gln |
| NM_007038.4:c.2075T>A | NP_008969.2:p.Leu692Gln |
| ENST00000284987.5:c.2075T>A | ENSP00000284987.5:p.Leu692Gln |
| ENST00000652031.1:c.1401T>A | |
| XM_011529448.1:c.1907T>A | XP_011527750.1:p.Leu636Gln |
| XM_024452053.1:c.2075T>A | XP_024307821.1:p.Leu692Gln |
| XM_024452054.1:c.1907T>A | XP_024307822.1:p.Leu636Gln |
| XR_937633.1:n.516-22537A>T |