Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100186688C= , CM000672.2:g.100186688C= | GRCh38 |
| NC_000010.10:g.101946445C= , CM000672.1:g.101946445C= | GRCh37 |
| NC_000010.9:g.101936435C= | NCBI36 |
| NG_028023.1:g.47900G= | |
| NG_052910.1:g.4370G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000421367.6:c.-1062G= (ERLIN1) | ENSP00000410964.2:n.-1062G= |
| XM_011539196.1:c.2209-246G= (CHUK) | XP_011537498.1:n.2209-246G= |
| XM_011539198.1:c.*32-246G= (CHUK) | XP_011537500.1:n.*32-246G= |