gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31936027G>A , CM000668.2:g.31936027G>A | GRCh38 |
| NC_000006.11:g.31903804G>A , CM000668.1:g.31903804G>A | GRCh37 |
| NC_000006.10:g.32011783G>A | NCBI36 |
| NG_011730.1:g.13539G>A , LRG_26:g.13539G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.768G>A (C2) | ENSP00000391354.3:p.Glu256= | |
| ENST00000452323.7:c.347-1292G>A (C2) | ENSP00000392322.2:n.347-1292G>A | |
| ENST00000468407.2:c.954G>A (C2) | ENSP00000512075.1:p.Glu318= | |
| ENST00000497706.6:c.315G>A (C2) | ENSP00000417482.2:p.Glu105= | |
| ENST00000695637.1:c.549G>A (C2) | ENSP00000512074.1:p.Glu183= | |
| ENST00000695638.1:c.954G>A (C2) | ENSP00000512076.1:p.Glu318= | |
| ENST00000695644.1:c.558G>A (C2) | ENSP00000512079.1:p.Glu186= | |
| ENST00000299367.10:c.954G>A (C2) MANE Select | ENSP00000299367.5:p.Glu318= | |
| ENST00000299367.9:c.954G>A (C2) | ENSP00000299367.5:p.Glu318= | |
| ENST00000383177.7:c.310-1292G>A (C2) | ||
| ENST00000411571.6:c.*194G>A (C2) | ENSP00000388727.2:n.*194G>A | |
| ENST00000442278.6:c.558G>A (C2) | ENSP00000395683.2:p.Glu186= | |
| ENST00000452323.6:c.347-1292G>A (C2) | ENSP00000392322.2:n.347-1292G>A | |
| ENST00000456570.5:c.530-1292G>A | ENSP00000410815.1:n.530-1292G>A | |
| ENST00000469372.5:c.216G>A (C2) | ENSP00000418923.1:p.Glu72= | |
| ENST00000477310.1:c.443-1292G>A | ENSP00000418996.1:n.443-1292G>A | |
| ENST00000482060.5:c.*667G>A (C2) | ENSP00000418332.1:n.*667G>A | |
| ENST00000485690.5:c.122G>A (C2) | ||
| ENST00000497706.5:c.315G>A (C2) | ENSP00000417482.1:p.Glu105= | |
| NM_000063.5:c.954G>A (C2) | NP_000054.2:p.Glu318= | |
| NM_001145903.2:c.558G>A (C2) | NP_001139375.1:p.Glu186= | |
| NM_001178063.2:c.347-1292G>A (C2) | NP_001171534.1:n.347-1292G>A | |
| NM_001282457.1:c.216G>A (C2) | NP_001269386.1:p.Glu72= | |
| NM_001282458.1:c.867G>A (C2) | NP_001269387.1:p.Glu289= | |
| NR_104191.1:n.541-625C>T (C2-AS1) | ||
| NM_000063.6:c.954G>A (C2) MANE Select | NP_000054.2:p.Glu318= | |
| NM_001145903.3:c.558G>A (C2) | NP_001139375.1:p.Glu186= | |
| NM_001282457.2:c.216G>A (C2) | NP_001269386.1:p.Glu72= | |
| NM_001282458.2:c.867G>A (C2) | NP_001269387.1:p.Glu289= | |
| NM_001178063.3:c.347-1292G>A (C2) | NP_001171534.1:n.347-1292G>A |