Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3153961T>G , CM000668.2:g.3153961T>G | GRCh38 |
| NC_000006.11:g.3154195T>G , CM000668.1:g.3154195T>G | GRCh37 |
| NC_000006.10:g.3099194T>G | NCBI36 |
| NG_042223.1:g.8589A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333628.4:c.1240A>C MANE Select | ENSP00000369703.2:p.Asn414His | |
| ENST00000679400.1:n.1296A>C | ||
| ENST00000679907.1:n.1628A>C | ||
| ENST00000680036.1:n.2022A>C | ||
| ENST00000680967.1:n.2330A>C | ||
| ENST00000333628.3:c.1240A>C | ENSP00000369703.2:p.Asn414His | |
| NM_001069.2:c.1240A>C | NP_001060.1:p.Asn414His | |
| NM_001310315.1:c.985A>C | NP_001297244.1:p.Asn329His | |
| NM_001069.3:c.1240A>C MANE Select | NP_001060.1:p.Asn414His | |
| NM_001310315.2:c.985A>C | NP_001297244.1:p.Asn329His |