Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87644636G>C , CM000678.2:g.87644636G>C | GRCh38 |
| NC_000016.9:g.87678242G>C , CM000678.1:g.87678242G>C | GRCh37 |
| NC_000016.8:g.86235743G>C | NCBI36 |
| NG_009797.1:g.46744G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284262.3:c.761G>C MANE Select | ENSP00000284262.2:p.Ser254Thr | |
| ENST00000284262.2:c.761G>C | ENSP00000284262.2:p.Ser254Thr | |
| ENST00000537256.5:n.475G>C | ||
| NM_020655.3:c.761G>C | NP_065706.2:p.Ser254Thr | |
| NR_073379.2:n.475G>C | ||
| XM_006721237.2:c.350G>C | XP_006721300.1:p.Ser117Thr | |
| NM_020655.4:c.761G>C MANE Select | NP_065706.2:p.Ser254Thr | |
| NR_073379.3:n.475G>C |