Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33300526T>C , CM000681.2:g.33300526T>C | GRCh38 |
| NC_000019.9:g.33791432T>C , CM000681.1:g.33791432T>C | GRCh37 |
| NC_000019.8:g.38483272T>C | NCBI36 |
| NG_012022.1:g.6999A>G , LRG_456:g.6999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.*812A>G MANE Select | ENSP00000427514.1:n.*812A>G | |
| ENST00000498907.2:c.*812A>G | ENSP00000427514.1:n.*812A>G | |
| NM_001285829.1:c.*812A>G | NP_001272758.1:n.*812A>G | |
| NM_001287424.1:c.*812A>G | NP_001274353.1:n.*812A>G | |
| NM_001287435.1:c.*812A>G | NP_001274364.1:n.*812A>G | |
| NM_004364.4:c.*812A>G | NP_004355.2:n.*812A>G | |
| NM_001287424.2:c.*812A>G | NP_001274353.1:n.*812A>G | |
| NM_004364.5:c.*812A>G MANE Select | NP_004355.2:n.*812A>G | |
| NM_001285829.2:c.*812A>G | NP_001272758.1:n.*812A>G | |
| NM_001287435.2:c.*812A>G | NP_001274364.1:n.*812A>G |