Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107924865G>A , CM000668.2:g.107924865G>A | GRCh38 |
| NC_000006.11:g.108246069G>A , CM000668.1:g.108246069G>A | GRCh37 |
| NC_000006.10:g.108352762G>A | NCBI36 |
| NG_008270.1:g.38414C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007214.5:c.292C>T MANE Select | NP_009145.1:p.Arg98Ter |
| ENST00000369002.9:c.292C>T MANE Select | ENSP00000357998.4:p.Arg98Ter |
| NM_007214.4:c.292C>T | NP_009145.1:p.Arg98Ter |
| ENST00000369002.8:c.292C>T | ENSP00000357998.4:p.Arg98Ter |
| ENST00000429168.1:c.124C>T | ENSP00000403144.1:p.Arg42Ter |
| ENST00000446496.1:c.*191C>T | ENSP00000410968.1:n.*191C>T |
| ENST00000484803.5:n.214C>T | |
| XM_011535399.1:c.124C>T | XP_011533701.1:p.Arg42Ter |
| XM_017010218.2:c.-803C>T | XP_016865707.1:n.-803C>T |