Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8514205T= , CM000674.2:g.8514205T= | GRCh38 |
| NC_000012.11:g.8666801T= , CM000674.1:g.8666801T= | GRCh37 |
| NC_000012.10:g.8558068T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299665.3:c.28+445T= MANE Select | ENSP00000299665.2:n.28+445T= | |
| ENST00000299665.2:c.28+445T= | ENSP00000299665.2:n.28+445T= | |
| ENST00000382064.6:c.28+445T= | ENSP00000371496.2:n.28+445T= | |
| NM_080387.4:c.28+445T= | NP_525126.2:n.28+445T= | |
| XM_011520632.1:c.28+445T= | XP_011518934.1:n.28+445T= | |
| XM_011520633.1:c.28+445T= | XP_011518935.1:n.28+445T= | |
| XM_011520632.2:c.28+445T= | XP_011518934.1:n.28+445T= | |
| XM_011520633.2:c.28+445T= | XP_011518935.1:n.28+445T= | |
| NM_080387.5:c.28+445T= MANE Select | NP_525126.2:n.28+445T= |