dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000380741
0.615
ENST00000380743 (MANE Select)
0.615
ENST00000511812
0.615
ENST00000380742
0.615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70049690C>G , CM000667.2:g.70049690C>G | GRCh38 |
| NC_000005.9:g.69345517C>G , CM000667.1:g.69345517C>G | GRCh37 |
| NC_000005.8:g.69381273C>G | NCBI36 |
| NG_008728.1:g.5168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380743.9:c.5C>G MANE Select | ENSP00000370119.4:p.Ala2Gly | |
| ENST00000638794.1:c.5C>G | ENSP00000492675.1:p.Ala2Gly | |
| ENST00000380741.8:c.5C>G | ENSP00000370117.5:p.Ala2Gly | |
| ENST00000380742.8:c.5C>G | ENSP00000370118.4:p.Ala2Gly | |
| ENST00000380743.8:c.5C>G | ENSP00000370119.4:p.Ala2Gly | |
| ENST00000506734.5:c.5C>G | ENSP00000424799.1:p.Ala2Gly | |
| ENST00000511812.5:c.5C>G | ENSP00000424282.1:p.Ala2Gly | |
| ENST00000614240.4:c.5C>G | ENSP00000479279.1:p.Ala2Gly | |
| ENST00000626847.2:c.5C>G | ENSP00000486152.1:p.Ala2Gly | |
| ENST00000628696.2:c.5C>G | ENSP00000486268.1:p.Ala2Gly | |
| NM_017411.3:c.5C>G | NP_059107.1:p.Ala2Gly | |
| NM_022875.2:c.5C>G | NP_075013.1:p.Ala2Gly | |
| NM_022876.2:c.5C>G | NP_075014.1:p.Ala2Gly | |
| NM_022877.2:c.5C>G | NP_075015.1:p.Ala2Gly | |
| XM_011543599.1:c.5C>G | XP_011541901.1:p.Ala2Gly | |
| XM_011543600.1:c.5C>G | XP_011541902.1:p.Ala2Gly | |
| XM_011543601.1:c.5C>G | XP_011541903.1:p.Ala2Gly | |
| XM_011543602.1:c.5C>G | XP_011541904.1:p.Ala2Gly | |
| XM_011543603.1:c.5C>G | XP_011541905.1:p.Ala2Gly | |
| XR_948432.1:n.1054+61686C>G | ||
| XM_011543600.2:c.5C>G | XP_011541902.1:p.Ala2Gly | |
| XM_011543602.3:c.5C>G | XP_011541904.1:p.Ala2Gly | |
| XM_011543603.3:c.5C>G | XP_011541905.1:p.Ala2Gly | |
| XM_017009787.1:c.5C>G | XP_016865276.1:p.Ala2Gly | |
| NM_017411.4:c.5C>G MANE Select | NP_059107.1:p.Ala2Gly | |
| NM_022875.3:c.5C>G | NP_075013.1:p.Ala2Gly |