Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216033845G>T , CM000664.2:g.216033845G>T | GRCh38 |
| NC_000002.11:g.216898568G>T , CM000664.1:g.216898568G>T | GRCh37 |
| NC_000002.10:g.216606813G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424992.5:c.-68+117C>A (MREG) | ENSP00000413302.1:n.-68+117C>A | |
| ENST00000442122.5:c.*440+5346C>A (PECR) | ENSP00000395512.1:n.*440+5346C>A | |
| XR_001738847.2:n.1056-993C>A (PECR) | ||
| NM_001372189.1:c.-68+117C>A (MREG) | NP_001359118.1:n.-68+117C>A |