Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98577954T= , CM000671.2:g.98577954T= | GRCh38 |
| NC_000009.11:g.101340236T= , CM000671.1:g.101340236T= | GRCh37 |
| NC_000009.10:g.100380057T= | NCBI36 |
| NG_016426.1:g.136244A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.440A= MANE Select | ENSP00000259455.2:p.Gln147= | |
| ENST00000637410.1:n.218A= | ||
| ENST00000637717.1:c.56A= | ENSP00000490789.1:p.Gln19= | |
| ENST00000259455.3:c.440A= | ENSP00000259455.2:p.Gln147= | |
| ENST00000634227.1:n.214A= | ||
| NM_005458.7:c.440A= | NP_005449.5:p.Gln147= | |
| NM_005458.8:c.440A= MANE Select | NP_005449.5:p.Gln147= |