Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15677622C>G , CM000672.2:g.15677622C>G | GRCh38 |
| NC_000010.10:g.15719621C>G , CM000672.1:g.15719621C>G | GRCh37 |
| NC_000010.9:g.15759627C>G | NCBI36 |
| NG_034116.1:g.47714G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378076.4:c.646G>C MANE Select | ENSP00000367316.3:p.Val216Leu | |
| ENST00000378076.3:c.646G>C | ENSP00000367316.3:p.Val216Leu | |
| NM_001291494.1:c.646G>C | NP_001278423.1:p.Val216Leu | |
| NM_003638.2:c.646G>C | NP_003629.2:p.Val216Leu | |
| XM_011519752.1:c.646G>C | XP_011518054.1:p.Val216Leu | |
| XM_011519752.2:c.646G>C | XP_011518054.1:p.Val216Leu | |
| NM_003638.3:c.646G>C MANE Select | NP_003629.2:p.Val216Leu | |
| NM_001291494.2:c.646G>C | NP_001278423.1:p.Val216Leu |