Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134493378T= , CM000685.2:g.134493378T= | GRCh38 |
| NC_000023.10:g.133627408T= , CM000685.1:g.133627408T= | GRCh37 |
| NC_000023.9:g.133455074T= | NCBI36 |
| NG_012329.1:g.38234T= | |
| NG_012329.2:g.38234T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.403-130T= MANE Select | ENSP00000298556.7:n.403-130T= | |
| ENST00000298556.7:c.403-130T= | ENSP00000298556.7:n.403-130T= | |
| ENST00000462974.5:n.561-130T= | ||
| ENST00000475720.1:n.361-130T= | ||
| NM_000194.2:c.403-130T= | NP_000185.1:n.403-130T= | |
| XM_011531328.1:c.421-130T= | XP_011529630.1:n.421-130T= | |
| NM_000194.3:c.403-130T= MANE Select | NP_000185.1:n.403-130T= |