Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920350G>T , CM000664.2:g.29920350G>T | GRCh38 |
| NC_000002.11:g.30143216G>T , CM000664.1:g.30143216G>T | GRCh37 |
| NC_000002.10:g.29996720G>T | NCBI36 |
| NG_009445.1:g.6217C>A , LRG_488:g.6217C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.310C>A MANE Select | NP_004295.2:p.Pro104Thr |
| ENST00000389048.8:c.310C>A MANE Select | ENSP00000373700.3:p.Pro104Thr |
| NM_004304.4:c.310C>A | NP_004295.2:p.Pro104Thr |
| ENST00000389048.7:c.310C>A | ENSP00000373700.3:p.Pro104Thr |
| XR_001738688.2:n.1240C>A |