Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212140G= , CM000670.2:g.23212140G= | GRCh38 |
| NC_000008.10:g.23069653G= , CM000670.1:g.23069653G= | GRCh37 |
| NC_000008.9:g.23125598G= | NCBI36 |
| NG_032107.1:g.18028C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.379C= MANE Select | ENSP00000221132.3:p.Pro127= | |
| ENST00000221132.7:c.379C= | ENSP00000221132.3:p.Pro127= | |
| ENST00000524158.5:c.-228C= | ENSP00000428884.1:n.-228C= | |
| ENST00000613472.1:c.32-9481C= | ENSP00000480778.1:n.32-9481C= | |
| NM_003844.3:c.379C= | NP_003835.3:p.Pro127= | |
| NM_003844.4:c.379C= MANE Select | NP_003835.3:p.Pro127= |