Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102205620A>G , CM000670.2:g.102205620A>G | GRCh38 |
| NC_000008.10:g.103217848A>G , CM000670.1:g.103217848A>G | GRCh37 |
| NC_000008.9:g.103287024A>G | NCBI36 |
| NG_016617.1:g.38499T>C , LRG_788:g.38499T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*2513T>C MANE Select | ENSP00000251810.3:n.*2513T>C | |
| ENST00000251810.7:c.*2513T>C | ENSP00000251810.3:n.*2513T>C | |
| NM_001172477.1:c.*2513T>C , LRG_788t1:c.*2513T>C | NP_001165948.1:n.*2513T>C | |
| NM_001172478.1:c.*2513T>C | NP_001165949.1:n.*2513T>C | |
| NM_015713.4:c.*2513T>C , LRG_788t2:c.*2513T>C | NP_056528.2:n.*2513T>C | |
| NM_001172478.2:c.*2513T>C | NP_001165949.1:n.*2513T>C | |
| NM_015713.5:c.*2513T>C MANE Select | NP_056528.2:n.*2513T>C |