Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107868842T>C , CM000668.2:g.107868842T>C | GRCh38 |
| NC_000006.11:g.108190046T>C , CM000668.1:g.108190046T>C | GRCh37 |
| NC_000006.10:g.108296739T>C | NCBI36 |
| NG_008270.1:g.94437A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*2862A>G MANE Select | ENSP00000357998.4:n.*2862A>G | |
| ENST00000369002.8:c.*2862A>G | ENSP00000357998.4:n.*2862A>G | |
| NM_007214.4:c.*2862A>G | NP_009145.1:n.*2862A>G | |
| NM_007214.5:c.*2862A>G MANE Select | NP_009145.1:n.*2862A>G |