Revel Score:
ENST00000299084 (MANE Select)
0.213
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00230003 (AFR)
Genomes Max Group AF
0.00200147 (AFR)
Exomes Max Group AF
0.00240461 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351031C>G , CM000677.2:g.38351031C>G | GRCh38 |
| NC_000015.9:g.38643232C>G , CM000677.1:g.38643232C>G | GRCh37 |
| NC_000015.8:g.36430524C>G | NCBI36 |
| NG_008980.1:g.103181C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.702C>G MANE Select | ENSP00000299084.4:p.Ile234Met | |
| ENST00000299084.8:c.702C>G | ENSP00000299084.4:p.Ile234Met | |
| NM_152594.2:c.702C>G | NP_689807.1:p.Ile234Met | |
| XM_005254202.2:c.738C>G | XP_005254259.1:p.Ile246Met | |
| XM_005254203.3:c.480C>G | XP_005254260.1:p.Ile160Met | |
| XM_011521288.1:c.639C>G | XP_011519590.1:p.Ile213Met | |
| XM_011521289.1:c.639C>G | XP_011519591.1:p.Ile213Met | |
| XM_011521290.1:c.639C>G | XP_011519592.1:p.Ile213Met | |
| XM_005254202.3:c.738C>G | XP_005254259.1:p.Ile246Met | |
| XM_011521289.3:c.639C>G | XP_011519591.1:p.Ile213Met | |
| NM_152594.3:c.702C>G MANE Select | NP_689807.1:p.Ile234Met |