Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160009682T= , CM000668.2:g.160009682T= | GRCh38 |
| NC_000006.11:g.160430714T= , CM000668.1:g.160430714T= | GRCh37 |
| NC_000006.10:g.160350704T= | NCBI36 |
| NG_011785.3:g.45584T= | |
| NG_011785.4:g.45584T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356956.6:c.414+548T= MANE Select | ENSP00000349437.1:n.414+548T= | |
| ENST00000676781.1:c.414+548T= | ENSP00000504419.1:n.414+548T= | |
| ENST00000677704.1:c.414+548T= | ENSP00000503314.1:n.414+548T= | |
| ENST00000356956.5:c.414+548T= | ENSP00000349437.1:n.414+548T= | |
| NM_000876.2:c.414+548T= | NP_000867.2:n.414+548T= | |
| XR_942419.1:n.429+548T= | ||
| NM_000876.3:c.414+548T= | NP_000867.2:n.414+548T= | |
| NM_000876.4:c.414+548T= MANE Select | NP_000867.3:n.414+548T= |