Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050555A= , CM000664.2:g.189050555A= | GRCh38 |
| NC_000002.11:g.189915281A= , CM000664.1:g.189915281A= | GRCh37 |
| NC_000002.10:g.189623526A= | NCBI36 |
| NG_011799.1:g.134325T= | |
| NG_011799.2:g.134325T= | |
| NG_011799.3:g.179747T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.3039+14T= MANE Select | ENSP00000364000.3:n.3039+14T= | |
| ENST00000374866.7:c.3039+14T= | ENSP00000364000.3:n.3039+14T= | |
| ENST00000618828.1:c.1878+14T= | ENSP00000482184.1:n.1878+14T= | |
| NM_000393.3:c.3039+14T= | NP_000384.2:n.3039+14T= | |
| XM_011510573.1:c.2901+14T= | XP_011508875.1:n.2901+14T= | |
| NM_000393.4:c.3039+14T= | NP_000384.2:n.3039+14T= | |
| XM_011510573.3:c.2901+14T= | XP_011508875.1:n.2901+14T= | |
| NM_000393.5:c.3039+14T= MANE Select | NP_000384.2:n.3039+14T= |