Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130475C= , CM000676.2:g.50130475C= | GRCh38 |
| NC_000014.8:g.50597193C= , CM000676.1:g.50597193C= | GRCh37 |
| NC_000014.7:g.49666943C= | NCBI36 |
| NG_051073.1:g.106219G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3337+26G= MANE Select | ENSP00000216373.5:n.3337+26G= | |
| ENST00000216373.9:c.3337+26G= | ENSP00000216373.5:n.3337+26G= | |
| ENST00000543680.5:c.3238+26G= | ENSP00000445328.1:n.3238+26G= | |
| NM_006939.2:c.3337+26G= | NP_008870.2:n.3337+26G= | |
| XM_005268021.1:c.3157+26G= | XP_005268078.1:n.3157+26G= | |
| XM_011537103.1:c.3298+26G= | XP_011535405.1:n.3298+26G= | |
| NM_006939.3:c.3337+26G= | NP_008870.2:n.3337+26G= | |
| NM_006939.4:c.3337+26G= MANE Select | NP_008870.2:n.3337+26G= |