Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82044446T>G , CM000677.2:g.82044446T>G | GRCh38 |
| NC_000015.9:g.82336787T>G , CM000677.1:g.82336787T>G | GRCh37 |
| NC_000015.8:g.80123842T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329713.5:c.424A>C MANE Select | ENSP00000329918.4:p.Asn142His | |
| ENST00000329713.4:c.424A>C | ENSP00000329918.4:p.Asn142His | |
| ENST00000558133.1:c.*783A>C | ENSP00000456938.1:n.*783A>C | |
| NM_032246.4:c.424A>C | NP_115622.2:p.Asn142His | |
| NM_032246.5:c.424A>C | NP_115622.2:p.Asn142His | |
| NM_032246.6:c.424A>C MANE Select | NP_115622.2:p.Asn142His |