Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212140G>C , CM000670.2:g.23212140G>C | GRCh38 |
| NC_000008.10:g.23069653G>C , CM000670.1:g.23069653G>C | GRCh37 |
| NC_000008.9:g.23125598G>C | NCBI36 |
| NG_032107.1:g.18028C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.379C>G MANE Select | ENSP00000221132.3:p.Pro127Ala | |
| ENST00000221132.7:c.379C>G | ENSP00000221132.3:p.Pro127Ala | |
| ENST00000524158.5:c.-228C>G | ENSP00000428884.1:n.-228C>G | |
| ENST00000613472.1:c.32-9481C>G | ENSP00000480778.1:n.32-9481C>G | |
| NM_003844.3:c.379C>G | NP_003835.3:p.Pro127Ala | |
| NM_003844.4:c.379C>G MANE Select | NP_003835.3:p.Pro127Ala |