Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218751C= , CM000676.2:g.93218751C= | GRCh38 |
| NC_000014.8:g.93685097C= , CM000676.1:g.93685097C= | GRCh37 |
| NC_000014.7:g.92754850C= | NCBI36 |
| NG_051089.1:g.16696C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.810+16C= MANE Select | ENSP00000013070.6:n.810+16C= | |
| ENST00000013070.10:c.810+16C= | ENSP00000013070.6:n.810+16C= | |
| ENST00000416753.5:c.582+16C= | ENSP00000391706.2:n.582+16C= | |
| ENST00000553674.1:c.*511+16C= | ENSP00000450470.1:n.*511+16C= | |
| ENST00000553857.5:c.378+3470C= | ||
| ENST00000555329.1:c.55+16C= | ||
| NM_175748.3:c.810+16C= | NP_786924.2:n.810+16C= | |
| NR_038150.1:n.912+16C= | ||
| NM_175748.4:c.810+16C= MANE Select | NP_786924.2:n.810+16C= | |
| NR_038150.2:n.712+16C= |