Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26414357G>C , CM000664.2:g.26414357G>C | GRCh38 |
| NC_000002.11:g.26637225G>C , CM000664.1:g.26637225G>C | GRCh37 |
| NC_000002.10:g.26490729G>C | NCBI36 |
| NG_042824.1:g.17446G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.169G>C MANE Select | ENSP00000288710.2:p.Glu57Gln | |
| ENST00000649059.1:c.155G>C | ||
| ENST00000288710.6:c.169G>C | ENSP00000288710.2:p.Glu57Gln | |
| ENST00000421869.5:c.169G>C | ENSP00000414375.1:p.Glu57Gln | |
| NM_145038.3:c.169G>C | NP_659475.2:p.Glu57Gln | |
| NM_145038.4:c.169G>C | NP_659475.2:p.Glu57Gln | |
| XM_005264637.3:c.-266G>C | XP_005264694.1:n.-266G>C | |
| XM_017005271.1:c.-712G>C | XP_016860760.1:n.-712G>C | |
| XM_024453218.1:c.-528G>C | XP_024308986.1:n.-528G>C | |
| NM_145038.5:c.169G>C MANE Select | NP_659475.2:p.Glu57Gln |