Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189068703T= , CM000664.2:g.189068703T= | GRCh38 |
| NC_000002.11:g.189933429T= , CM000664.1:g.189933429T= | GRCh37 |
| NC_000002.10:g.189641674T= | NCBI36 |
| NG_011799.1:g.116177A= | |
| NG_011799.2:g.116177A= | |
| NG_011799.3:g.161599A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.1257+83A= MANE Select | NP_000384.2:n.1257+83A= |
| ENST00000374866.9:c.1257+83A= MANE Select | ENSP00000364000.3:n.1257+83A= |
| NM_000393.3:c.1257+83A= | NP_000384.2:n.1257+83A= |
| NM_000393.4:c.1257+83A= | NP_000384.2:n.1257+83A= |
| ENST00000374866.7:c.1257+83A= | ENSP00000364000.3:n.1257+83A= |
| ENST00000618828.1:c.359-2270A= | ENSP00000482184.1:n.359-2270A= |
| XM_011510573.1:c.1119+83A= | XP_011508875.1:n.1119+83A= |
| XM_011510573.3:c.1119+83A= | XP_011508875.1:n.1119+83A= |