Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131933553G>A , CM000667.2:g.131933553G>A | GRCh38 |
| NC_000005.9:g.131269246G>A , CM000667.1:g.131269246G>A | GRCh37 |
| NC_000005.8:g.131297145G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001303622.2:c.438C>T MANE Select | NP_001290551.1:p.Ser146= |
| ENST00000442687.6:c.438C>T MANE Select | ENSP00000488568.1:p.Ser146= |
| NM_001303622.1:c.438C>T | NP_001290551.1:p.Ser146= |
| ENST00000413683.5:c.*363C>T | ENSP00000415140.1:n.*363C>T |
| ENST00000425320.1:n.278C>T | |
| ENST00000442687.5:c.438C>T | ENSP00000488568.1:p.Ser146= |
| ENST00000616644.2:c.438C>T | ENSP00000481155.1:p.Ser146= |
| ENST00000652469.1:c.*213+11112C>T | ENSP00000498837.1:n.*213+11112C>T |