Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12019587G>C , CM000679.2:g.12019587G>C | GRCh38 |
| NC_000017.10:g.11922904G>C , CM000679.1:g.11922904G>C | GRCh37 |
| NC_000017.9:g.11863629G>C | NCBI36 |
| NG_033952.1:g.3770G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000578024.1:n.24+1736C>G (RPL21P122) | |
| ENST00000579522.1:n.186+1736C>G (RPL21P122) | |
| XM_024450911.1:c.-329+1736C>G (ZNF18) | XP_024306679.1:n.-329+1736C>G |
| XR_934231.1:n.143+993C>G |