Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732940G= , CM000663.2:g.115732940G= | GRCh38 |
| NC_000001.10:g.116275561G= , CM000663.1:g.116275561G= | GRCh37 |
| NC_000001.9:g.116077084G= | NCBI36 |
| NG_008802.1:g.40866C= , LRG_404:g.40866C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.291C= | ENSP00000518226.1:p.Phe97= | |
| ENST00000261448.6:c.567C= MANE Select | ENSP00000261448.5:p.Phe189= | |
| ENST00000261448.5:c.567C= | ENSP00000261448.5:p.Phe189= | |
| NM_001232.3:c.567C= , LRG_404t1:c.567C= | NP_001223.2:p.Phe189= | |
| NM_001232.4:c.567C= MANE Select | NP_001223.2:p.Phe189= |