Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94010911T>A;94011395A>G] , CM000663.2:g.[94010911T>A;94011395A>G] | GRCh38 |
| NC_000001.10:g.[94476467T>A;94476951A>G] , CM000663.1:g.[94476467T>A;94476951A>G] | GRCh37 |
| NC_000001.9:g.[94249055T>A;94249539A>G] | NCBI36 |
| NG_009073.1:g.[114755T>C;115239A>T] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.[5461-10T>C;5603A>T] MANE Select | NP_000341.2:p.Asn1868Ile |
| ENST00000370225.4:c.[5461-10T>C;5603A>T] MANE Select | ENSP00000359245.3:p.Asn1868Ile |
| NM_000350.2:c.[5461-10T>C;5603A>T] | NP_000341.2:p.Asn1868Ile |
| ENST00000370225.3:c.[5461-10T>C;5603A>T] | ENSP00000359245.3:p.Asn1868Ile |
| ENST00000536513.5:c.[1837-10T>C;1979A>T] | ENSP00000439707.2:p.Asn660Ile |