Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20220320G>C , CM000670.2:g.20220320G>C | GRCh38 |
| NC_000008.10:g.20077831G>C , CM000670.1:g.20077831G>C | GRCh37 |
| NC_000008.9:g.20122111G>C | NCBI36 |
| NG_047013.1:g.28128G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001693.4:c.1454G>C MANE Select | NP_001684.2:p.Arg485Pro |
| ENST00000276390.7:c.1454G>C MANE Select | ENSP00000276390.2:p.Arg485Pro |
| NM_001693.3:c.1454G>C | NP_001684.2:p.Arg485Pro |
| ENST00000276390.6:c.1454G>C | ENSP00000276390.2:p.Arg485Pro |
| ENST00000521442.1:c.101+2038G>C | |
| ENST00000523482.5:n.5538G>C | |
| XR_002956632.1:n.2930G>C | |
| XR_002956633.1:n.3398G>C |