Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814005C= , CM000664.2:g.218814005C= | GRCh38 |
| NC_000002.11:g.219678728C= , CM000664.1:g.219678728C= | GRCh37 |
| NC_000002.10:g.219386972C= | NCBI36 |
| NG_007959.1:g.37257C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1018-16C= MANE Select | ENSP00000258415.4:n.1018-16C= | |
| ENST00000258415.8:c.1018-16C= | ENSP00000258415.4:n.1018-16C= | |
| ENST00000445971.1:c.*479-16C= | ENSP00000404945.1:n.*479-16C= | |
| ENST00000466602.1:n.1140-16C= | ||
| ENST00000494263.5:n.1452-16C= | ||
| NM_000784.3:c.1018-16C= | NP_000775.1:n.1018-16C= | |
| XM_017003488.2:c.598-16C= | XP_016858977.1:n.598-16C= | |
| NM_000784.4:c.1018-16C= MANE Select | NP_000775.1:n.1018-16C= |