Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7941174T>C , CM000681.2:g.7941174T>C | GRCh38 |
| NC_000019.9:g.8006059T>C , CM000681.1:g.8006059T>C | GRCh37 |
| NC_000019.8:g.7912059T>C | NCBI36 |
| NG_051180.1:g.7650A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.69A>G MANE Select | ENSP00000270538.2:p.Gln23= | |
| ENST00000270538.7:c.69A>G | ENSP00000270538.2:p.Gln23= | |
| ENST00000595831.5:c.53A>G | ||
| ENST00000595876.5:c.69A>G | ENSP00000471596.1:p.Gln23= | |
| ENST00000597926.1:c.45+2433A>G | ENSP00000469389.1:n.45+2433A>G | |
| ENST00000600000.1:n.84A>G | ||
| ENST00000600748.5:n.54A>G | ||
| NM_006351.3:c.69A>G | NP_006342.2:p.Gln23= | |
| NM_006351.4:c.69A>G MANE Select | NP_006342.2:p.Gln23= |