Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88852128T= , CM000669.2:g.88852128T= | GRCh38 |
| NC_000007.13:g.88481442T= , CM000669.1:g.88481442T= | GRCh37 |
| NC_000007.12:g.88319378T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181646.5:c.108+92044T= MANE Select | NP_857597.1:n.108+92044T= |
| ENST00000333190.5:c.108+92044T= MANE Select | ENSP00000329638.4:n.108+92044T= |
| NM_181646.3:c.108+92044T= | NP_857597.1:n.108+92044T= |
| NM_181646.4:c.108+92044T= | NP_857597.1:n.108+92044T= |
| ENST00000333190.4:c.108+92044T= | ENSP00000329638.4:n.108+92044T= |