Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253192G>T , CM000677.2:g.38253192G>T | GRCh38 |
| NC_000015.9:g.38545393G>T , CM000677.1:g.38545393G>T | GRCh37 |
| NC_000015.8:g.36332685G>T | NCBI36 |
| NG_008980.1:g.5342G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.7G>T MANE Select | ENSP00000299084.4:p.Glu3Ter | |
| ENST00000299084.8:c.7G>T | ENSP00000299084.4:p.Glu3Ter | |
| ENST00000561205.1:n.345G>T | ||
| ENST00000561317.1:c.-121G>T | ENSP00000453680.1:n.-121G>T | |
| NM_152594.2:c.7G>T | NP_689807.1:p.Glu3Ter | |
| XM_005254202.2:c.7G>T | XP_005254259.1:p.Glu3Ter | |
| XM_005254203.3:c.-41G>T | XP_005254260.1:n.-41G>T | |
| XM_005254202.3:c.7G>T | XP_005254259.1:p.Glu3Ter | |
| XR_001751484.1:n.87+375C>A | ||
| NM_152594.3:c.7G>T MANE Select | NP_689807.1:p.Glu3Ter |