Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487039A>C , CM000677.2:g.48487039A>C | GRCh38 |
| NC_000015.9:g.48779236A>C , CM000677.1:g.48779236A>C | GRCh37 |
| NC_000015.8:g.46566528A>C | NCBI36 |
| NG_008805.2:g.163750T>G , LRG_778:g.163750T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3589+36T>G | ENSP00000453958.2:n.3589+36T>G | |
| ENST00000674301.2:c.3589+36T>G | ENSP00000501333.2:n.3589+36T>G | |
| ENST00000684448.1:n.2263+36T>G | ||
| ENST00000316623.10:c.3589+36T>G MANE Select | ENSP00000325527.5:n.3589+36T>G | |
| ENST00000316623.9:c.3589+36T>G | ENSP00000325527.5:n.3589+36T>G | |
| ENST00000537463.6:c.637-12389T>G | ENSP00000440294.2:n.637-12389T>G | |
| NM_000138.4:c.3589+36T>G , LRG_778t1:c.3589+36T>G | NP_000129.3:n.3589+36T>G | |
| NM_000138.5:c.3589+36T>G MANE Select | NP_000129.3:n.3589+36T>G |