Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26336611G>T , CM000674.2:g.26336611G>T | GRCh38 |
| NC_000012.11:g.26489544G>T , CM000674.1:g.26489544G>T | GRCh37 |
| NC_000012.10:g.26380811G>T | NCBI36 |
| NG_042142.1:g.501588C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002223.4:c.*2786C>A MANE Select | NP_002214.2:n.*2786C>A |
| ENST00000381340.8:c.*2786C>A MANE Select | ENSP00000370744.3:n.*2786C>A |
| NM_002223.2:c.*2786C>A | NP_002214.2:n.*2786C>A |
| NM_002223.3:c.*2786C>A | NP_002214.2:n.*2786C>A |
| ENST00000381340.7:c.*2786C>A | ENSP00000370744.3:n.*2786C>A |
| XM_011520645.1:c.*2786C>A | XP_011518947.1:n.*2786C>A |
| XM_011520646.1:c.*2786C>A | XP_011518948.1:n.*2786C>A |
| XM_017019266.1:c.*2786C>A | XP_016874755.1:n.*2786C>A |