Revel Score:
ENST00000437703
0.241
ENST00000456159
0.241
ENST00000397752 (MANE Select)
0.241
ENST00000318493
0.241
ENST00000436117
0.241
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007258 (EAS)
Exomes Max Group AF
0.00006511 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116699227C>G , CM000669.2:g.116699227C>G | GRCh38 |
| NC_000007.13:g.116339281C>G , CM000669.1:g.116339281C>G | GRCh37 |
| NC_000007.12:g.116126517C>G | NCBI36 |
| NG_008996.1:g.31823C>G , LRG_662:g.31823C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.143C>G | ENSP00000398776.2:p.Ala48Gly | |
| ENST00000436117.3:c.143C>G | ENSP00000410980.2:p.Ala48Gly | |
| ENST00000318493.11:c.143C>G | ENSP00000317272.6:p.Ala48Gly | |
| ENST00000397752.8:c.143C>G MANE Select | ENSP00000380860.3:p.Ala48Gly | |
| ENST00000318493.10:c.143C>G | ENSP00000317272.6:p.Ala48Gly | |
| ENST00000397752.7:c.143C>G | ENSP00000380860.3:p.Ala48Gly | |
| ENST00000436117.2:c.143C>G | ENSP00000410980.2:p.Ala48Gly | |
| ENST00000456159.1:c.200C>G | ENSP00000413857.1:p.Ala67Gly | |
| NM_000245.2:c.143C>G | NP_000236.2:p.Ala48Gly | |
| NM_001127500.1:c.143C>G , LRG_662t1:c.143C>G | NP_001120972.1:p.Ala48Gly | |
| XM_006715991.2:c.-91+26650C>G | XP_006716054.1:n.-91+26650C>G | |
| XM_011516223.1:c.200C>G | XP_011514525.1:p.Ala67Gly | |
| NM_000245.3:c.143C>G | NP_000236.2:p.Ala48Gly | |
| NM_001127500.2:c.143C>G | NP_001120972.1:p.Ala48Gly | |
| NM_001324401.1:c.143C>G | NP_001311330.1:p.Ala48Gly | |
| NM_001324402.1:c.-91+26650C>G | NP_001311331.1:n.-91+26650C>G | |
| XR_001744772.1:n.374C>G | ||
| NM_001127500.3:c.143C>G | NP_001120972.1:p.Ala48Gly | |
| NM_000245.4:c.143C>G MANE Select | NP_000236.2:p.Ala48Gly | |
| NM_001324401.2:c.143C>G | NP_001311330.1:p.Ala48Gly | |
| NM_001324402.2:c.-91+26650C>G | NP_001311331.1:n.-91+26650C>G | |
| NM_001324401.3:c.143C>G | NP_001311330.1:p.Ala48Gly |