Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1999213T>C , CM000673.2:g.1999213T>C | GRCh38 |
| NC_000011.9:g.2020443T>C , CM000673.1:g.2020443T>C | GRCh37 |
| NC_000011.8:g.1977019T>C | NCBI36 |
| NG_016165.1:g.3623A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131224.1:n.249+2005A>G (H19) | ||
| XM_011520273.1:c.498-12328T>C (MRPL23) | XP_011518575.1:n.498-12328T>C | |
| XM_011520274.1:c.492-12328T>C (MRPL23) | XP_011518576.1:n.492-12328T>C | |
| XM_011520275.1:c.498-12328T>C (MRPL23) | XP_011518577.1:n.498-12328T>C | |
| XM_011520275.2:c.498-12328T>C (MRPL23) | XP_011518577.1:n.498-12328T>C | |
| NM_001400176.1:c.498-12328T>C (MRPL23) | NP_001387105.1:n.498-12328T>C |