Revel Score:
ENST00000247933
0.207
ENST00000453894
0.207
ENST00000514224 (MANE Select)
0.207
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00502689 (EAS)
Genomes Max Group AF
0.00104636 (EAS)
Exomes Max Group AF
0.00544445 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002327C>G , CM000666.2:g.1002327C>G | GRCh38 |
| NC_000004.11:g.996115C>G , CM000666.1:g.996115C>G | GRCh37 |
| NC_000004.10:g.986115C>G | NCBI36 |
| NG_008103.1:g.20331C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1031C>G | ENSP00000247933.4:p.Ala344Gly | |
| ENST00000514224.2:c.1031C>G MANE Select | ENSP00000425081.2:p.Ala344Gly | |
| ENST00000652070.1:n.1087C>G | ||
| ENST00000247933.8:c.1031C>G | ENSP00000247933.4:p.Ala344Gly | |
| ENST00000514224.1:c.635C>G | ENSP00000425081.1:p.Ala212Gly | |
| ENST00000514698.5:n.1138C>G | ||
| NM_000203.4:c.1031C>G | NP_000194.2:p.Ala344Gly | |
| NR_110313.1:n.1119C>G | ||
| XM_006713882.2:c.635C>G | XP_006713945.1:p.Ala212Gly | |
| XM_011513459.1:c.1097C>G | XP_011511761.1:p.Ala366Gly | |
| XM_011513460.1:c.890C>G | XP_011511762.1:p.Ala297Gly | |
| XM_011513461.1:c.824C>G | XP_011511763.1:p.Ala275Gly | |
| XM_011513462.1:c.743C>G | XP_011511764.1:p.Ala248Gly | |
| XM_011513463.1:c.743C>G | XP_011511765.1:p.Ala248Gly | |
| XR_924947.1:n.1100C>G | ||
| NM_000203.5:c.1031C>G MANE Select | NP_000194.2:p.Ala344Gly | |
| NM_001363576.1:c.635C>G | NP_001350505.1:p.Ala212Gly | |
| XM_011513461.2:c.824C>G | XP_011511763.1:p.Ala275Gly | |
| XM_017008163.1:c.71C>G | XP_016863652.1:p.Ala24Gly |