Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14136783T= , CM000668.2:g.14136783T= | GRCh38 |
| NC_000006.11:g.14137014T= , CM000668.1:g.14137014T= | GRCh37 |
| NC_000006.10:g.14244993T= | NCBI36 |
| NG_030372.1:g.24528T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004233.4:c.*1547T= MANE Select | NP_004224.1:n.*1547T= |
| ENST00000379153.4:c.*1547T= MANE Select | ENSP00000368450.3:n.*1547T= |
| NM_001040280.1:c.*1547T= | NP_001035370.1:n.*1547T= |
| NM_001040280.2:c.*1547T= | NP_001035370.1:n.*1547T= |
| NM_001040280.3:c.*1547T= | NP_001035370.1:n.*1547T= |
| NM_001251901.1:c.*1547T= | NP_001238830.1:n.*1547T= |
| NM_004233.3:c.*1547T= | NP_004224.1:n.*1547T= |
| ENST00000379153.3:c.*1547T= | ENSP00000368450.3:n.*1547T= |
| ENST00000612003.4:c.*1547T= | ENSP00000480760.1:n.*1547T= |