Revel Score:
ENST00000242729 (MANE Select)
0.083
ENST00000441067
0.083
ENST00000535504
0.083
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26195898A>G , CM000674.2:g.26195898A>G | GRCh38 |
| NC_000012.11:g.26348831A>G , CM000674.1:g.26348831A>G | GRCh37 |
| NC_000012.10:g.26240098A>G | NCBI36 |
| NG_012011.2:g.78908A>G , LRG_209:g.78908A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242729.7:c.226A>G MANE Select | ENSP00000242729.2:p.Ser76Gly | |
| ENST00000242729.6:c.226A>G | ENSP00000242729.2:p.Ser76Gly | |
| ENST00000422622.3:c.-31+367A>G | ENSP00000396087.2:n.-31+367A>G | |
| ENST00000534829.5:n.102-56970A>G | ||
| ENST00000535504.1:c.226A>G | ENSP00000438801.1:p.Ser76Gly | |
| ENST00000538142.5:c.-30-28395A>G | ENSP00000445360.1:n.-30-28395A>G | |
| ENST00000540266.5:c.-30-28395A>G | ENSP00000442893.1:n.-30-28395A>G | |
| ENST00000544231.1:n.176+367A>G | ||
| NM_001135823.1:c.-31+367A>G , LRG_209t1:c.-31+367A>G | NP_001129295.1:n.-31+367A>G | |
| NM_005086.4:c.226A>G , LRG_209t2:c.226A>G | NP_005077.2:p.Ser76Gly | |
| XM_011520853.1:c.-30-28395A>G | XP_011519155.1:n.-30-28395A>G | |
| XM_011520855.1:c.-30-28395A>G | XP_011519157.1:n.-30-28395A>G | |
| XM_011520853.3:c.-30-28395A>G | XP_011519155.1:n.-30-28395A>G | |
| XM_011520855.2:c.-30-28395A>G | XP_011519157.1:n.-30-28395A>G | |
| NM_005086.5:c.226A>G MANE Select | NP_005077.2:p.Ser76Gly |