Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7581502G= , CM000679.2:g.7581502G= | GRCh38 |
| NC_000017.10:g.7484820G= , CM000679.1:g.7484820G= | GRCh37 |
| NC_000017.9:g.7425544G= | NCBI36 |
| NG_009204.1:g.2856G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250092.11:c.1056G= MANE Select | ENSP00000250092.6:p.Gln352= | |
| ENST00000250092.10:c.1056G= | ENSP00000250092.6:p.Gln352= | |
| ENST00000380498.10:c.975G= | ENSP00000369867.6:p.Gln325= | |
| ENST00000584180.1:c.771G= | ||
| NM_001040059.1:c.975G= | NP_001035148.1:p.Gln325= | |
| NM_001251.2:c.1056G= | NP_001242.2:p.Gln352= | |
| NM_001251.3:c.1056G= MANE Select | NP_001242.2:p.Gln352= | |
| NM_001040059.2:c.975G= | NP_001035148.1:p.Gln325= |