Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31666509A>T , CM000683.2:g.31666509A>T | GRCh38 |
| NC_000021.8:g.33038822A>T , CM000683.1:g.33038822A>T | GRCh37 |
| NC_000021.7:g.31960693A>T | NCBI36 |
| NG_008689.1:g.11888A>T , LRG_652:g.11888A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.230A>T MANE Select | NP_000445.1:p.Asp77Val |
| ENST00000270142.11:c.230A>T MANE Select | ENSP00000270142.7:p.Asp77Val |
| NM_000454.4:c.230A>T , LRG_652t1:c.230A>T | NP_000445.1:p.Asp77Val |
| ENST00000270142.10:c.230A>T | ENSP00000270142.6:p.Asp77Val |
| ENST00000389995.4:c.173A>T | ENSP00000374645.4:p.Asp58Val |
| ENST00000470944.1:n.1158A>T | |
| ENST00000476106.5:n.493A>T |