Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056921A>G , CM000667.2:g.136056921A>G | GRCh38 |
| NC_000005.9:g.135392610A>G , CM000667.1:g.135392610A>G | GRCh37 |
| NC_000005.8:g.135420509A>G | NCBI36 |
| NG_012646.1:g.33027A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1678+126A>G MANE Select | ENSP00000416330.2:n.1678+126A>G | |
| ENST00000442011.6:c.1678+126A>G | ENSP00000416330.2:n.1678+126A>G | |
| ENST00000506699.5:n.2195+126A>G | ||
| ENST00000507018.5:c.1656+126A>G | ||
| ENST00000509485.5:c.675+126A>G | ||
| ENST00000514242.5:n.449+126A>G | ||
| ENST00000514554.5:c.830+126A>G | ||
| NM_000358.2:c.1678+126A>G | NP_000349.1:n.1678+126A>G | |
| NM_000358.3:c.1678+126A>G MANE Select | NP_000349.1:n.1678+126A>G |