Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445640C>T , CM000663.2:g.15445640C>T | GRCh38 |
| NC_000001.10:g.15772135C>T , CM000663.1:g.15772135C>T | GRCh37 |
| NC_000001.9:g.15644722C>T | NCBI36 |
| NG_009253.1:g.12198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.683C>T MANE Select | ENSP00000365116.4:p.Ser228Phe | |
| ENST00000375943.6:c.*137C>T | ENSP00000365110.2:n.*137C>T | |
| ENST00000375949.4:c.683C>T | ENSP00000365116.4:p.Ser228Phe | |
| ENST00000483406.1:n.447C>T | ||
| NM_007272.2:c.683C>T | NP_009203.2:p.Ser228Phe | |
| XM_011540550.1:c.537C>T | XP_011538852.1:p.Phe179= | |
| NM_007272.3:c.683C>T MANE Select | NP_009203.2:p.Ser228Phe |