Revel Score:
ENST00000328300 (MANE Select)
0.358
ENST00000361603
0.358
ENST00000508186
0.358
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03007159 (EAS)
Genomes Max Group AF
0.01390673 (EAS)
Exomes Max Group AF
0.03162122 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108603032C>G , CM000685.2:g.108603032C>G | GRCh38 |
| NC_000023.10:g.107846262C>G , CM000685.1:g.107846262C>G | GRCh37 |
| NC_000023.9:g.107732918C>G | NCBI36 |
| NG_011977.1:g.168109C>G | |
| NG_011977.2:g.168109C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.2215C>G MANE Select | ENSP00000331902.7:p.Pro739Ala | |
| ENST00000361603.7:c.2215C>G | ENSP00000354505.2:p.Pro739Ala | |
| ENST00000328300.10:c.2215C>G | ENSP00000331902.6:p.Pro739Ala | |
| ENST00000361603.6:c.2215C>G | ENSP00000354505.2:p.Pro739Ala | |
| ENST00000483338.1:n.1671C>G | ||
| NM_000495.4:c.2215C>G | NP_000486.1:p.Pro739Ala | |
| NM_033380.2:c.2215C>G | NP_203699.1:p.Pro739Ala | |
| XM_005262070.2:c.2215C>G | XP_005262127.1:p.Pro739Ala | |
| XM_005262072.3:c.2215C>G | XP_005262129.1:p.Pro739Ala | |
| XM_006724616.2:c.2215C>G | XP_006724679.1:p.Pro739Ala | |
| XM_011530849.1:c.1891C>G | XP_011529151.1:p.Pro631Ala | |
| XM_011530850.1:c.2215C>G | XP_011529152.1:p.Pro739Ala | |
| XM_011530851.1:c.-62C>G | XP_011529153.1:n.-62C>G | |
| XM_011530849.2:c.2230C>G | XP_011529151.2:p.Pro744Ala | |
| XM_017029259.2:c.2230C>G | XP_016884748.1:p.Pro744Ala | |
| XM_017029260.1:c.2230C>G | XP_016884749.1:p.Pro744Ala | |
| XM_017029261.1:c.2230C>G | XP_016884750.1:p.Pro744Ala | |
| XM_017029262.2:c.2230C>G | XP_016884751.1:p.Pro744Ala | |
| XM_017029263.2:c.550C>G | XP_016884752.1:p.Pro184Ala | |
| NM_000495.5:c.2215C>G | NP_000486.1:p.Pro739Ala | |
| NM_033380.3:c.2215C>G MANE Select | NP_203699.1:p.Pro739Ala |