Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985522C>T , CM000675.2:g.99985522C>T | GRCh38 |
| NC_000013.10:g.100637776C>T , CM000675.1:g.100637776C>T | GRCh37 |
| NC_000013.9:g.99435777C>T | NCBI36 |
| NG_007085.2:g.8458C>T | |
| NG_007085.3:g.8767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1439C>T MANE Select | ENSP00000365514.3:p.Ser480Leu | |
| ENST00000376335.7:c.1439C>T | ENSP00000365514.3:p.Ser480Leu | |
| ENST00000481565.1:n.29C>T | ||
| ENST00000620342.1:c.1436C>T | ENSP00000481510.1:p.Ser479Leu | |
| NM_007129.3:c.1439C>T | NP_009060.2:p.Ser480Leu | |
| NM_007129.4:c.1439C>T | NP_009060.2:p.Ser480Leu | |
| NM_007129.5:c.1439C>T MANE Select | NP_009060.2:p.Ser480Leu |