Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100665369G>C , CM000685.2:g.100665369G>C | GRCh38 |
| NC_000023.10:g.99920366G>C , CM000685.1:g.99920366G>C | GRCh37 |
| NC_000023.9:g.99807022G>C | NCBI36 |
| NG_021337.1:g.26204G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.659G>C MANE Select | NP_055282.1:p.Arg220Thr |
| ENST00000373004.5:c.659G>C MANE Select | ENSP00000362095.3:p.Arg220Thr |
| NM_014467.2:c.659G>C | NP_055282.1:p.Arg220Thr |
| ENST00000373004.3:c.659G>C | ENSP00000362095.3:p.Arg220Thr |
| ENST00000638458.1:c.683G>C | ENSP00000492168.1:p.Arg228Thr |
| ENST00000638920.1:n.662G>C | |
| ENST00000640889.1:c.659G>C | ENSP00000492571.1:p.Arg220Thr |
| ENST00000677630.1:n.593G>C | |
| ENST00000679590.1:n.692G>C | |
| XM_005262121.2:c.659G>C | XP_005262178.1:p.Arg220Thr |