Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985644A>C , CM000675.2:g.99985644A>C | GRCh38 |
| NC_000013.10:g.100637898A>C , CM000675.1:g.100637898A>C | GRCh37 |
| NC_000013.9:g.99435899A>C | NCBI36 |
| NG_007085.2:g.8580A>C | |
| NG_007085.3:g.8889A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1561A>C MANE Select | ENSP00000365514.3:p.Ser521Arg | |
| ENST00000376335.7:c.1561A>C | ENSP00000365514.3:p.Ser521Arg | |
| ENST00000481565.1:n.151A>C | ||
| ENST00000620342.1:c.1558A>C | ENSP00000481510.1:p.Ser520Arg | |
| NM_007129.3:c.1561A>C | NP_009060.2:p.Ser521Arg | |
| NM_007129.4:c.1561A>C | NP_009060.2:p.Ser521Arg | |
| NM_007129.5:c.1561A>C MANE Select | NP_009060.2:p.Ser521Arg |