Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241801762C= , CM000664.2:g.241801762C= | GRCh38 |
| NC_000002.11:g.242741177C= , CM000664.1:g.242741177C= | GRCh37 |
| NC_000002.10:g.242389850C= | NCBI36 |
| NG_046977.1:g.29938C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192314.7:c.120-19C= MANE Select | ENSP00000192314.6:n.120-19C= | |
| ENST00000192314.6:c.120-19C= | ENSP00000192314.6:n.120-19C= | |
| NM_022134.2:c.120-19C= | NP_071417.2:n.120-19C= | |
| NM_022134.3:c.120-19C= MANE Select | NP_071417.2:n.120-19C= |