Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044051C= , CM000672.2:g.114044051C= | GRCh38 |
| NC_000010.10:g.115803810C= , CM000672.1:g.115803810C= | GRCh37 |
| NC_000010.9:g.115793800C= | NCBI36 |
| NG_012187.1:g.5005C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-82C= MANE Select | ENSP00000358301.2:n.-82C= | |
| NM_000684.2:c.-82C= | NP_000675.1:n.-82C= | |
| NM_000684.3:c.-82C= MANE Select | NP_000675.1:n.-82C= |