Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.131468161C>T , CM000665.2:g.131468161C>T | GRCh38 |
| NC_000003.11:g.131187005C>T , CM000665.1:g.131187005C>T | GRCh37 |
| NC_000003.10:g.132669695C>T | NCBI36 |
| NG_029207.1:g.39856G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007208.4:c.824G>A MANE Select | NP_009139.1:p.Arg275Lys |
| ENST00000264995.8:c.824G>A MANE Select | ENSP00000264995.2:p.Arg275Lys |
| NM_007208.3:c.824G>A | NP_009139.1:p.Arg275Lys |
| ENST00000264995.7:c.824G>A | ENSP00000264995.2:p.Arg275Lys |
| ENST00000425847.6:c.905G>A | ENSP00000398536.2:p.Arg302Lys |
| ENST00000510043.1:n.248G>A | |
| ENST00000511168.5:c.867G>A |