Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107920175A>C , CM000669.2:g.107920175A>C | GRCh38 |
| NC_000007.13:g.107560620A>C , CM000669.1:g.107560620A>C | GRCh37 |
| NC_000007.12:g.107347856A>C | NCBI36 |
| NG_008045.1:g.34035A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.*916A>C MANE Select | ENSP00000205402.3:n.*916A>C | |
| ENST00000205402.9:c.*916A>C | ENSP00000205402.3:n.*916A>C | |
| ENST00000417551.5:c.*124+792A>C | ENSP00000390667.1:n.*124+792A>C | |
| NM_000108.4:c.*916A>C | NP_000099.2:n.*916A>C | |
| NM_001289750.1:c.*916A>C | NP_001276679.1:n.*916A>C | |
| NM_001289751.1:c.*916A>C | NP_001276680.1:n.*916A>C | |
| NM_001289752.1:c.*916A>C | NP_001276681.1:n.*916A>C | |
| NM_000108.5:c.*916A>C MANE Select | NP_000099.2:n.*916A>C |