Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49505441A>G , CM000682.2:g.49505441A>G | GRCh38 |
| NC_000020.10:g.48121978A>G , CM000682.1:g.48121978A>G | GRCh37 |
| NC_000020.9:g.47555385A>G | NCBI36 |
| NG_007940.1:g.67730T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.*2479T>C MANE Select | NP_000952.1:n.*2479T>C |
| ENST00000244043.5:c.*2479T>C MANE Select | ENSP00000244043.3:n.*2479T>C |
| NM_000961.3:c.*2479T>C | NP_000952.1:n.*2479T>C |
| ENST00000244043.4:c.*2479T>C | ENSP00000244043.3:n.*2479T>C |