Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1999250C>T , CM000673.2:g.1999250C>T | GRCh38 |
| NC_000011.9:g.2020480C>T , CM000673.1:g.2020480C>T | GRCh37 |
| NC_000011.8:g.1977056C>T | NCBI36 |
| NG_016165.1:g.3586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131224.1:n.249+1968G>A (H19) | ||
| XM_011520273.1:c.498-12291C>T (MRPL23) | XP_011518575.1:n.498-12291C>T | |
| XM_011520274.1:c.492-12291C>T (MRPL23) | XP_011518576.1:n.492-12291C>T | |
| XM_011520275.1:c.498-12291C>T (MRPL23) | XP_011518577.1:n.498-12291C>T | |
| XM_011520275.2:c.498-12291C>T (MRPL23) | XP_011518577.1:n.498-12291C>T | |
| NM_001400176.1:c.498-12291C>T (MRPL23) | NP_001387105.1:n.498-12291C>T |