Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40775111G= , CM000681.2:g.40775111G= | GRCh38 |
| NC_000019.9:g.41281016G= , CM000681.1:g.41281016G= | GRCh37 |
| NC_000019.8:g.45972856G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000597600.5:c.-6-426G= (MIA) | ENSP00000472982.1:n.-6-426G= |
| ENST00000600729.1:c.-6-426G= (MIA-RAB4B) | ENSP00000472384.1:n.-6-426G= |
| ENST00000600729.2:c.-6-426G= (MIA-RAB4B) | ENSP00000472384.1:n.-6-426G= |