Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991635T>G , CM000679.2:g.49991635T>G | GRCh38 |
| NC_000017.10:g.48068999T>G , CM000679.1:g.48068999T>G | GRCh37 |
| NC_000017.9:g.45423998T>G | NCBI36 |
| NG_023063.1:g.8590A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005220.3:c.746A>C MANE Select | NP_005211.1:p.Asn249Thr |
| ENST00000434704.2:c.746A>C MANE Select | ENSP00000389870.2:p.Asn249Thr |
| NM_005220.2:c.746A>C | NP_005211.1:p.Asn249Thr |
| ENST00000512495.2:c.386A>C | ENSP00000449976.1:p.Asn129Thr |
| XM_011524458.1:c.516+1765A>C | XP_011522760.1:n.516+1765A>C |