Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174596A>G , CM000674.2:g.21174596A>G | GRCh38 |
| NC_000012.11:g.21327530A>G , CM000674.1:g.21327530A>G | GRCh37 |
| NC_000012.10:g.21218797A>G | NCBI36 |
| NG_011745.1:g.48403A>G , LRG_1022:g.48403A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.246A>G MANE Select | ENSP00000256958.2:p.Val82= | |
| ENST00000256958.2:c.246A>G | ENSP00000256958.2:p.Val82= | |
| ENST00000543498.5:c.426-2180A>G | ||
| NM_006446.4:c.246A>G , LRG_1022t1:c.246A>G | NP_006437.3:p.Val82= | |
| NM_006446.5:c.246A>G MANE Select | NP_006437.3:p.Val82= |