Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993127G= , CM000685.2:g.154993127G= | GRCh38 |
| NC_000023.10:g.154221402G= , CM000685.1:g.154221402G= | GRCh37 |
| NC_000023.9:g.153874596G= | NCBI36 |
| NG_011403.1:g.34597C= | |
| NG_011403.2:g.34597C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.410C= MANE Select | NP_000123.1:p.Thr137= |
| ENST00000360256.9:c.410C= MANE Select | ENSP00000353393.4:p.Thr137= |
| NM_000132.3:c.410C= | NP_000123.1:p.Thr137= |
| ENST00000360256.8:c.410C= | ENSP00000353393.4:p.Thr137= |
| ENST00000423959.5:c.305C= | ENSP00000409446.1:p.Thr102= |
| ENST00000453950.1:c.392C= | ENSP00000389153.1:p.Thr131= |
| ENST00000647125.1:c.*196C= | ENSP00000496062.1:n.*196C= |
| XM_011531126.1:c.305C= | XP_011529428.1:p.Thr102= |