Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077061G>C , CM000677.2:g.65077061G>C | GRCh38 |
| NC_000015.9:g.65369399G>C , CM000677.1:g.65369399G>C | GRCh37 |
| NC_000015.8:g.63156452G>C | NCBI36 |
| NG_021411.1:g.5246G>C , LRG_682:g.5246G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.246G>C MANE Select | ENSP00000388723.2:p.Val82= | |
| ENST00000432196.3:c.246G>C | ENSP00000388723.2:p.Val82= | |
| NM_001101362.2:c.246G>C , LRG_682t1:c.246G>C | NP_001094832.1:p.Val82= | |
| NM_001101362.3:c.246G>C MANE Select | NP_001094832.1:p.Val82= |