Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119164251C>T , CM000666.2:g.119164251C>T | GRCh38 |
| NC_000004.11:g.120085406C>T , CM000666.1:g.120085406C>T | GRCh37 |
| NC_000004.10:g.120304854C>T | NCBI36 |
| NG_029747.1:g.33468C>T , LRG_396:g.33468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.417C>T MANE Select | ENSP00000306997.6:p.Phe139= | |
| ENST00000307128.5:c.417C>T | ENSP00000306997.5:p.Phe139= | |
| NM_016599.4:c.417C>T , LRG_396t1:c.417C>T | NP_057683.1:p.Phe139= | |
| XM_006714234.2:c.417C>T | XP_006714297.1:p.Phe139= | |
| XM_006714234.4:c.417C>T | XP_006714297.1:p.Phe139= | |
| NM_016599.5:c.417C>T MANE Select | NP_057683.1:p.Phe139= |