Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843516C= , CM000676.2:g.22843516C= | GRCh38 |
| NC_000014.8:g.23312725C= , CM000676.1:g.23312725C= | GRCh37 |
| NC_000014.7:g.22382565C= | NCBI36 |
| NG_046989.1:g.11984C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.850+98C= MANE Select | ENSP00000308208.6:n.850+98C= | |
| ENST00000548162.2:c.850+98C= | ENSP00000506068.1:n.850+98C= | |
| ENST00000680097.1:c.*165+98C= | ENSP00000506631.1:n.*165+98C= | |
| ENST00000680941.1:c.*248+98C= | ENSP00000506378.1:n.*248+98C= | |
| ENST00000311852.10:c.850+98C= | ENSP00000308208.6:n.850+98C= | |
| ENST00000548162.1:n.1092+98C= | ||
| NM_004995.3:c.850+98C= | NP_004986.1:n.850+98C= | |
| NM_004995.4:c.850+98C= MANE Select | NP_004986.1:n.850+98C= |