Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46412524G>C , CM000681.2:g.46412524G>C | GRCh38 |
| NC_000019.9:g.46915781G>C , CM000681.1:g.46915781G>C | GRCh37 |
| NC_000019.8:g.51607621G>C | NCBI36 |
| NG_031956.1:g.6139C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032040.5:c.287C>G MANE Select | NP_114429.2:p.Thr96Arg |
| ENST00000307522.5:c.287C>G MANE Select | ENSP00000303158.3:p.Thr96Arg |
| NM_032040.4:c.287C>G | NP_114429.2:p.Thr96Arg |
| ENST00000307522.3:c.287C>G | ENSP00000303158.3:p.Thr96Arg |
| ENST00000697726.1:c.497C>G | ENSP00000513420.1:p.Thr166Arg |