Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.84055325G>A , CM000668.2:g.84055325G>A | GRCh38 |
| NC_000006.11:g.84765044G>A , CM000668.1:g.84765044G>A | GRCh37 |
| NC_000006.10:g.84821763G>A | NCBI36 |
| NG_051944.1:g.26667G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138409.4:c.7G>A MANE Select | NP_612418.2:p.Ala3Thr |
| ENST00000257776.5:c.7G>A MANE Select | ENSP00000257776.4:p.Ala3Thr |
| NM_001346541.1:c.-152G>A | NP_001333470.1:n.-152G>A |
| NM_001346541.2:c.-152G>A | NP_001333470.1:n.-152G>A |
| NM_001346542.1:c.7G>A | NP_001333471.1:p.Ala3Thr |
| NM_001346542.2:c.7G>A | NP_001333471.1:p.Ala3Thr |
| NM_001346543.1:c.-253G>A | NP_001333472.1:n.-253G>A |
| NM_001346543.2:c.-253G>A | NP_001333472.1:n.-253G>A |
| NM_001346544.1:c.7G>A | NP_001333473.1:p.Ala3Thr |
| NM_001346544.2:c.7G>A | NP_001333473.1:p.Ala3Thr |
| NM_138409.2:c.7G>A | NP_612418.2:p.Ala3Thr |
| NM_138409.3:c.7G>A | NP_612418.2:p.Ala3Thr |
| ENST00000257776.4:c.7G>A | ENSP00000257776.4:p.Ala3Thr |
| XM_005248644.2:c.7G>A | XP_005248701.1:p.Ala3Thr |
| XM_005248645.2:c.7G>A | XP_005248702.1:p.Ala3Thr |
| XM_011535400.1:c.7G>A | XP_011533702.1:p.Ala3Thr |
| XM_011535401.1:c.7G>A | XP_011533703.1:p.Ala3Thr |
| XM_011535402.1:c.7G>A | XP_011533704.1:p.Ala3Thr |
| XM_011535403.1:c.7G>A | XP_011533705.1:p.Ala3Thr |
| XM_017010220.1:c.7G>A | XP_016865709.1:p.Ala3Thr |
| XM_017010221.2:c.7G>A | XP_016865710.1:p.Ala3Thr |
| XM_024446318.1:c.7G>A | XP_024302086.1:p.Ala3Thr |