Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985409C>T , CM000675.2:g.99985409C>T | GRCh38 |
| NC_000013.10:g.100637663C>T , CM000675.1:g.100637663C>T | GRCh37 |
| NC_000013.9:g.99435664C>T | NCBI36 |
| NG_007085.2:g.8345C>T | |
| NG_007085.3:g.8654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1326C>T MANE Select | ENSP00000365514.3:p.Ser442= | |
| ENST00000376335.7:c.1326C>T | ENSP00000365514.3:p.Ser442= | |
| ENST00000468291.1:n.300C>T | ||
| ENST00000477213.1:n.408C>T | ||
| ENST00000490085.5:n.372C>T | ||
| ENST00000620342.1:c.1323C>T | ENSP00000481510.1:p.Ser441= | |
| NM_007129.3:c.1326C>T | NP_009060.2:p.Ser442= | |
| XM_011521110.1:c.*79C>T | XP_011519412.1:n.*79C>T | |
| NM_007129.4:c.1326C>T | NP_009060.2:p.Ser442= | |
| NM_007129.5:c.1326C>T MANE Select | NP_009060.2:p.Ser442= |