Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501176T>C , CM000677.2:g.90501176T>C | GRCh38 |
| NC_000015.9:g.91044408T>C , CM000677.1:g.91044408T>C | GRCh37 |
| NC_000015.8:g.88845412T>C | NCBI36 |
| NG_052946.1:g.117936T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003870.4:c.*1068T>C MANE Select | NP_003861.1:n.*1068T>C |
| ENST00000268182.10:c.*1068T>C MANE Select | ENSP00000268182.5:n.*1068T>C |
| NM_003870.3:c.*1068T>C | NP_003861.1:n.*1068T>C |
| ENST00000268182.9:c.*1068T>C | ENSP00000268182.5:n.*1068T>C |
| ENST00000558957.1:n.2100T>C | |
| ENST00000561086.1:n.1809T>C | |
| XR_001751409.2:n.6171T>C |