Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189043180T>A , CM000664.2:g.189043180T>A | GRCh38 |
| NC_000002.11:g.189907906T>A , CM000664.1:g.189907906T>A | GRCh37 |
| NC_000002.10:g.189616151T>A | NCBI36 |
| NG_011799.1:g.141700A>T | |
| NG_011799.2:g.141700A>T | |
| NG_011799.3:g.187122A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.3442A>T MANE Select | NP_000384.2:p.Thr1148Ser |
| ENST00000374866.9:c.3442A>T MANE Select | ENSP00000364000.3:p.Thr1148Ser |
| NM_000393.3:c.3442A>T | NP_000384.2:p.Thr1148Ser |
| NM_000393.4:c.3442A>T | NP_000384.2:p.Thr1148Ser |
| ENST00000374866.7:c.3442A>T | ENSP00000364000.3:p.Thr1148Ser |
| ENST00000618828.1:c.2281A>T | ENSP00000482184.1:p.Thr761Ser |
| XM_011510573.1:c.3304A>T | XP_011508875.1:p.Thr1102Ser |
| XM_011510573.3:c.3304A>T | XP_011508875.1:p.Thr1102Ser |