Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.[133636672G>A;133647854G>A] , CM000671.2:g.[133636672G>A;133647854G>A] | GRCh38 |
| NC_000009.11:g.[136501794G>A;136512976G>A] , CM000671.1:g.[136501794G>A;136512976G>A] | GRCh37 |
| NC_000009.10:g.[135491615G>A;135502797G>A] | NCBI36 |
| NG_008645.1:g.[5310G>A;16492G>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.[301G>A;1033G>A] MANE Select | ENSP00000376776.2:p.[Val101Met;Asp345Asn] | |
| ENST00000393056.6:c.[301G>A;1033G>A] | ENSP00000376776.2:p.[Val101Met;Asp345Asn] | |
| NM_000787.3:c.[301G>A;1033G>A] | NP_000778.3:p.[Val101Met;Asp345Asn] | |
| NM_000787.4:c.[301G>A;1033G>A] MANE Select | NP_000778.3:p.[Val101Met;Asp345Asn] |