Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651707A>T , CM000672.2:g.119651707A>T | GRCh38 |
| NC_000010.10:g.121411219A>T , CM000672.1:g.121411219A>T | GRCh37 |
| NC_000010.9:g.121401209A>T | NCBI36 |
| NG_016125.1:g.5338A>T , LRG_742:g.5338A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004281.4:c.32A>T MANE Select | NP_004272.2:p.Gln11Leu |
| ENST00000369085.8:c.32A>T MANE Select | ENSP00000358081.4:p.Gln11Leu |
| NM_004281.3:c.32A>T , LRG_742t1:c.32A>T | NP_004272.2:p.Gln11Leu |
| ENST00000369085.7:c.32A>T | ENSP00000358081.3:p.Gln11Leu |
| XM_005270287.1:c.32A>T | XP_005270344.1:p.Gln11Leu |
| XM_005270287.2:c.32A>T | XP_005270344.1:p.Gln11Leu |