Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33004478C>T , CM000668.2:g.33004478C>T | GRCh38 |
| NC_000006.11:g.32972255C>T , CM000668.1:g.32972255C>T | GRCh37 |
| NC_000006.10:g.33080233C>T | NCBI36 |
| NG_012007.1:g.10135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*2360G>A MANE Select | ENSP00000229829.3:n.*2360G>A | |
| ENST00000229829.6:c.*2360G>A | ENSP00000229829.3:n.*2360G>A | |
| NM_002119.3:c.*2360G>A | NP_002110.1:n.*2360G>A | |
| NM_002119.4:c.*2360G>A MANE Select | NP_002110.1:n.*2360G>A |