Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843514C>T , CM000676.2:g.22843514C>T | GRCh38 |
| NC_000014.8:g.23312723C>T , CM000676.1:g.23312723C>T | GRCh37 |
| NC_000014.7:g.22382563C>T | NCBI36 |
| NG_046989.1:g.11982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.850+96C>T MANE Select | ENSP00000308208.6:n.850+96C>T | |
| ENST00000548162.2:c.850+96C>T | ENSP00000506068.1:n.850+96C>T | |
| ENST00000680097.1:c.*165+96C>T | ENSP00000506631.1:n.*165+96C>T | |
| ENST00000680941.1:c.*248+96C>T | ENSP00000506378.1:n.*248+96C>T | |
| ENST00000311852.10:c.850+96C>T | ENSP00000308208.6:n.850+96C>T | |
| ENST00000548162.1:n.1092+96C>T | ||
| NM_004995.3:c.850+96C>T | NP_004986.1:n.850+96C>T | |
| NM_004995.4:c.850+96C>T MANE Select | NP_004986.1:n.850+96C>T |