Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189009153A>T , CM000664.2:g.189009153A>T | GRCh38 |
| NC_000002.11:g.189873879A>T , CM000664.1:g.189873879A>T | GRCh37 |
| NC_000002.10:g.189582124A>T | NCBI36 |
| NG_007404.1:g.39781A>T , LRG_3:g.39781A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.3755A>T MANE Select | NP_000081.2:p.Asp1252Val |
| ENST00000304636.9:c.3755A>T MANE Select | ENSP00000304408.4:p.Asp1252Val |
| NM_000090.3:c.3755A>T , LRG_3t1:c.3755A>T | NP_000081.1:p.Asp1252Val |
| ENST00000304636.7:c.3755A>T | ENSP00000304408.3:p.Asp1252Val |
| ENST00000317840.9:c.2846A>T | ENSP00000315243.6:p.Asp949Val |
| ENST00000450867.2:c.3656A>T | ENSP00000415346.2:p.Asp1219Val |
| ENST00000487010.1:n.852A>T |