Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116173545T= , CM000685.2:g.116173545T= | GRCh38 |
| NC_000023.10:g.115304798T= , CM000685.1:g.115304798T= | GRCh37 |
| NC_000023.9:g.115218826T= | NCBI36 |
| NG_016326.1:g.7841T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.*173T= MANE Select | ENSP00000360973.4:n.*173T= | |
| ENST00000371906.4:c.*173T= | ENSP00000360973.4:n.*173T= | |
| NM_000686.4:c.*173T= | NP_000677.2:n.*173T= | |
| XM_011537533.1:c.*173T= | XP_011535835.1:n.*173T= | |
| NM_000686.5:c.*173T= MANE Select | NP_000677.2:n.*173T= | |
| NM_001385624.1:c.*173T= | NP_001372553.1:n.*173T= |