Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1996938C= , CM000673.2:g.1996938C= | GRCh38 |
| NC_000011.9:g.2018168C= , CM000673.1:g.2018168C= | GRCh37 |
| NC_000011.8:g.1974744C= | NCBI36 |
| NG_016165.1:g.5898G= | |
| NG_045220.1:g.9531C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002196.2:n.938G= (H19) | ||
| NR_131223.1:n.938G= (H19) | ||
| NR_131224.1:n.250-517G= (H19) | ||
| XM_011520273.1:c.498-14603C= (MRPL23) | XP_011518575.1:n.498-14603C= | |
| XM_011520274.1:c.492-14603C= (MRPL23) | XP_011518576.1:n.492-14603C= | |
| XM_011520275.1:c.498-14603C= (MRPL23) | XP_011518577.1:n.498-14603C= | |
| XM_011520275.2:c.498-14603C= (MRPL23) | XP_011518577.1:n.498-14603C= | |
| NM_001400176.1:c.498-14603C= (MRPL23) | NP_001387105.1:n.498-14603C= |