Revel Score:
ENST00000262186 (MANE Select)
0.418
ENST00000430723
0.418
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974752G>C , CM000669.2:g.150974752G>C | GRCh38 |
| NC_000007.13:g.150671840G>C , CM000669.1:g.150671840G>C | GRCh37 |
| NC_000007.12:g.150302773G>C | NCBI36 |
| NG_008916.1:g.8175C>G , LRG_288:g.8175C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.266C>G MANE Select | ENSP00000262186.5:p.Ala89Gly | |
| ENST00000262186.9:c.266C>G | ENSP00000262186.5:p.Ala89Gly | |
| ENST00000430723.4:c.89C>G | ENSP00000387657.4:p.Ala30Gly | |
| ENST00000532957.5:n.489C>G | ||
| NM_000238.3:c.266C>G , LRG_288t1:c.266C>G | NP_000229.1:p.Ala89Gly | |
| NM_172056.2:c.266C>G , LRG_288t2:c.266C>G | NP_742053.1:p.Ala89Gly | |
| XM_011516186.1:c.266C>G | XP_011514488.1:p.Ala89Gly | |
| XM_011516186.3:c.266C>G | XP_011514488.1:p.Ala89Gly | |
| XM_017012196.1:c.89C>G | XP_016867685.1:p.Ala30Gly | |
| NM_000238.4:c.266C>G MANE Select | NP_000229.1:p.Ala89Gly |