Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30196523A>G , CM000679.2:g.30196523A>G | GRCh38 |
| NC_000017.10:g.28523541A>G , CM000679.1:g.28523541A>G | GRCh37 |
| NC_000017.9:g.25547667A>G | NCBI36 |
| NG_011747.2:g.44414T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.*1933T>C MANE Select | ENSP00000498537.1:n.*1933T>C | |
| ENST00000261707.7:c.*1933T>C | ENSP00000261707.3:n.*1933T>C | |
| ENST00000401766.6:c.*1933T>C | ENSP00000385822.2:n.*1933T>C | |
| NM_001045.5:c.*1933T>C | NP_001036.1:n.*1933T>C | |
| NM_001045.6:c.*1933T>C MANE Select | NP_001036.1:n.*1933T>C |