Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157416708C>T , CM000669.2:g.157416708C>T | GRCh38 |
| NC_000007.13:g.157209402C>T , CM000669.1:g.157209402C>T | GRCh37 |
| NC_000007.12:g.156902163C>T | NCBI36 |
| NG_032573.1:g.84693C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058246.4:c.*610C>T MANE Select | NP_490647.1:n.*610C>T |
| ENST00000262177.9:c.*610C>T MANE Select | ENSP00000262177.4:n.*610C>T |
| NM_001363676.1:c.*610C>T | NP_001350605.1:n.*610C>T |
| NM_058246.3:c.*610C>T | NP_490647.1:n.*610C>T |
| ENST00000262177.8:c.*610C>T | ENSP00000262177.4:n.*610C>T |
| ENST00000459889.5:c.*6114C>T | ENSP00000488263.1:n.*6114C>T |
| XM_006715823.1:c.*610C>T | XP_006715886.1:n.*610C>T |
| XM_006715823.2:c.*610C>T | XP_006715886.1:n.*610C>T |