Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659837A>T , CM000683.2:g.31659837A>T | GRCh38 |
| NC_000021.8:g.33032150A>T , CM000683.1:g.33032150A>T | GRCh37 |
| NC_000021.7:g.31954021A>T | NCBI36 |
| NG_008689.1:g.5216A>T , LRG_652:g.5216A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.68A>T MANE Select | NP_000445.1:p.Gln23Leu |
| ENST00000270142.11:c.68A>T MANE Select | ENSP00000270142.7:p.Gln23Leu |
| NM_000454.4:c.68A>T , LRG_652t1:c.68A>T | NP_000445.1:p.Gln23Leu |
| ENST00000270142.10:c.68A>T | ENSP00000270142.6:p.Gln23Leu |
| ENST00000389995.4:c.15+53A>T | ENSP00000374645.4:n.15+53A>T |
| ENST00000470944.1:n.129A>T | |
| ENST00000476106.5:n.145A>T |