Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843512A>C , CM000676.2:g.22843512A>C | GRCh38 |
| NC_000014.8:g.23312721A>C , CM000676.1:g.23312721A>C | GRCh37 |
| NC_000014.7:g.22382561A>C | NCBI36 |
| NG_046989.1:g.11980A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.850+94A>C MANE Select | ENSP00000308208.6:n.850+94A>C | |
| ENST00000548162.2:c.850+94A>C | ENSP00000506068.1:n.850+94A>C | |
| ENST00000680097.1:c.*165+94A>C | ENSP00000506631.1:n.*165+94A>C | |
| ENST00000680941.1:c.*248+94A>C | ENSP00000506378.1:n.*248+94A>C | |
| ENST00000311852.10:c.850+94A>C | ENSP00000308208.6:n.850+94A>C | |
| ENST00000548162.1:n.1092+94A>C | ||
| NM_004995.3:c.850+94A>C | NP_004986.1:n.850+94A>C | |
| NM_004995.4:c.850+94A>C MANE Select | NP_004986.1:n.850+94A>C |