Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911449T= , CM000679.2:g.42911449T= | GRCh38 |
| NC_000017.10:g.41063466T= , CM000679.1:g.41063466T= | GRCh37 |
| NC_000017.9:g.38316992T= | NCBI36 |
| NG_011808.1:g.15652T= , LRG_147:g.15652T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.*23T= MANE Select | NP_000142.2:n.*23T= |
| ENST00000253801.7:c.*23T= MANE Select | ENSP00000253801.1:n.*23T= |
| NM_000151.3:c.*23T= | NP_000142.2:n.*23T= |
| NM_001270397.1:c.*489T= | NP_001257326.1:n.*489T= |
| NM_001270397.2:c.*489T= | NP_001257326.1:n.*489T= |
| ENST00000253801.6:c.*23T= | ENSP00000253801.1:n.*23T= |
| ENST00000585489.1:c.*489T= | ENSP00000466202.1:n.*489T= |