Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41395944A>C , CM000684.2:g.41395944A>C | GRCh38 |
| NC_000022.10:g.41791948A>C , CM000684.1:g.41791948A>C | GRCh37 |
| NC_000022.9:g.40121894A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003216.4:c.896A>C MANE Select | NP_003207.1:p.Lys299Thr |
| ENST00000266304.9:c.896A>C MANE Select | ENSP00000266304.4:p.Lys299Thr |
| NM_001145398.2:c.806A>C | NP_001138870.1:p.Lys269Thr |
| NM_001145398.3:c.806A>C | NP_001138870.1:p.Lys269Thr |
| NM_003216.3:c.896A>C | NP_003207.1:p.Lys299Thr |
| ENST00000266304.8:c.896A>C | ENSP00000266304.4:p.Lys299Thr |
| ENST00000406644.7:c.806A>C | ENSP00000385256.3:p.Lys269Thr |