Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116888889T= , CM000668.2:g.116888889T= | GRCh38 |
| NC_000006.11:g.117210052T= , CM000668.1:g.117210052T= | GRCh37 |
| NC_000006.10:g.117316745T= | NCBI36 |
| NG_027699.1:g.16677T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173560.4:c.567-5098T= MANE Select | NP_775831.2:n.567-5098T= |
| ENST00000332958.3:c.567-5098T= MANE Select | ENSP00000332208.2:n.567-5098T= |
| NM_173560.3:c.567-5098T= | NP_775831.2:n.567-5098T= |
| ENST00000332958.2:c.567-5098T= | ENSP00000332208.2:n.567-5098T= |
| ENST00000471966.1:n.257+3844T= | |
| ENST00000487683.5:n.631-5098T= | |
| XM_011535589.1:c.567-5098T= | XP_011533891.1:n.567-5098T= |
| XM_017010477.1:c.189-5098T= | XP_016865966.1:n.189-5098T= |