Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32050269C>T , CM000668.2:g.32050269C>T | GRCh38 |
| NC_000006.11:g.32018046C>T , CM000668.1:g.32018046C>T | GRCh37 |
| NC_000006.10:g.32126024C>T | NCBI36 |
| NG_008337.2:g.64106G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.9168G>A MANE Select | NP_001352205.1:p.Glu3056= |
| ENST00000644971.2:c.9168G>A MANE Select | ENSP00000496448.1:p.Glu3056= |
| NM_001365276.1:c.9168G>A | NP_001352205.1:p.Glu3056= |
| NM_019105.6:c.9162G>A | NP_061978.6:p.Glu3054= |
| NM_019105.7:c.9162G>A | NP_061978.6:p.Glu3054= |
| NM_019105.8:c.9162G>A | NP_061978.6:p.Glu3054= |
| ENST00000375244.7:c.9168G>A | ENSP00000364393.3:p.Glu3056= |
| ENST00000611016.2:c.2322G>A | ENSP00000483409.1:p.Glu774= |
| ENST00000647633.1:c.9909G>A | ENSP00000497649.1:p.Glu3303= |