Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85301285G>T , CM000674.2:g.85301285G>T | GRCh38 |
| NC_000012.11:g.85695063G>T , CM000674.1:g.85695063G>T | GRCh37 |
| NC_000012.10:g.84219194G>T | NCBI36 |
| NG_023202.1:g.26028G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006982.3:c.791G>T MANE Select | NP_008913.2:p.Gly264Val |
| ENST00000316824.4:c.791G>T MANE Select | ENSP00000315417.3:p.Gly264Val |
| NM_006982.2:c.791G>T | NP_008913.2:p.Gly264Val |
| ENST00000316824.3:c.791G>T | ENSP00000315417.3:p.Gly264Val |
| XM_005269165.3:c.791G>T | XP_005269222.1:p.Gly264Val |
| XM_011538782.1:c.506G>T | XP_011537084.1:p.Gly169Val |
| XM_011538782.2:c.506G>T | XP_011537084.1:p.Gly169Val |
| XM_011538783.1:c.506G>T | XP_011537085.1:p.Gly169Val |