Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32050242C>T , CM000668.2:g.32050242C>T | GRCh38 |
| NC_000006.11:g.32018019C>T , CM000668.1:g.32018019C>T | GRCh37 |
| NC_000006.10:g.32125997C>T | NCBI36 |
| NG_008337.2:g.64133G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.9195G>A MANE Select | NP_001352205.1:p.Glu3065= |
| ENST00000644971.2:c.9195G>A MANE Select | ENSP00000496448.1:p.Glu3065= |
| NM_001365276.1:c.9195G>A | NP_001352205.1:p.Glu3065= |
| NM_019105.6:c.9189G>A | NP_061978.6:p.Glu3063= |
| NM_019105.7:c.9189G>A | NP_061978.6:p.Glu3063= |
| NM_019105.8:c.9189G>A | NP_061978.6:p.Glu3063= |
| ENST00000375244.7:c.9195G>A | ENSP00000364393.3:p.Glu3065= |
| ENST00000611016.2:c.2349G>A | ENSP00000483409.1:p.Glu783= |
| ENST00000647633.1:c.9936G>A | ENSP00000497649.1:p.Glu3312= |