Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94010911T>A;94120994G>A] , CM000663.2:g.[94010911T>A;94120994G>A] | GRCh38 |
| NC_000001.10:g.[94476467T>A;94586550G>A] , CM000663.1:g.[94476467T>A;94586550G>A] | GRCh37 |
| NC_000001.9:g.[94249055T>A;94359138G>A] | NCBI36 |
| NG_009073.1:g.[5156C>T;115239A>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.[52C>T;5603A>T] MANE Select | ENSP00000359245.3:p.[Arg18Trp;Asn1868Ile] | |
| ENST00000370225.3:c.[52C>T;5603A>T] | ENSP00000359245.3:p.[Arg18Trp;Asn1868Ile] | |
| NM_000350.2:c.[52C>T;5603A>T] | NP_000341.2:p.[Arg18Trp;Asn1868Ile] | |
| NM_000350.3:c.[52C>T;5603A>T] MANE Select | NP_000341.2:p.[Arg18Trp;Asn1868Ile] |