Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33300343A>T , CM000681.2:g.33300343A>T | GRCh38 |
| NC_000019.9:g.33791249A>T , CM000681.1:g.33791249A>T | GRCh37 |
| NC_000019.8:g.38483089A>T | NCBI36 |
| NG_012022.1:g.7182T>A , LRG_456:g.7182T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.*995T>A MANE Select | ENSP00000427514.1:n.*995T>A | |
| ENST00000498907.2:c.*995T>A | ENSP00000427514.1:n.*995T>A | |
| NM_001285829.1:c.*995T>A | NP_001272758.1:n.*995T>A | |
| NM_001287424.1:c.*995T>A | NP_001274353.1:n.*995T>A | |
| NM_001287435.1:c.*995T>A | NP_001274364.1:n.*995T>A | |
| NM_004364.4:c.*995T>A | NP_004355.2:n.*995T>A | |
| NM_001287424.2:c.*995T>A | NP_001274353.1:n.*995T>A | |
| NM_004364.5:c.*995T>A MANE Select | NP_004355.2:n.*995T>A | |
| NM_001285829.2:c.*995T>A | NP_001272758.1:n.*995T>A | |
| NM_001287435.2:c.*995T>A | NP_001274364.1:n.*995T>A |