Revel Score:
ENST00000328300 (MANE Select)
0.814
ENST00000361603
0.814
ENST00000508186
0.814
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00353802 (EAS)
Genomes Max Group AF
0.00262053 (EAS)
Exomes Max Group AF
0.00349047 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108680694C>T , CM000685.2:g.108680694C>T | GRCh38 |
| NC_000023.10:g.107923924C>T , CM000685.1:g.107923924C>T | GRCh37 |
| NC_000023.9:g.107810580C>T | NCBI36 |
| NG_011977.1:g.245771C>T | |
| NG_011977.2:g.245771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.3958C>T MANE Select | ENSP00000331902.7:p.Pro1320Ser | |
| ENST00000361603.7:c.3940C>T | ENSP00000354505.2:p.Pro1314Ser | |
| ENST00000510690.2:n.452C>T | ||
| ENST00000328300.10:c.3958C>T | ENSP00000331902.6:p.Pro1320Ser | |
| ENST00000361603.6:c.3940C>T | ENSP00000354505.2:p.Pro1314Ser | |
| ENST00000489230.1:n.361C>T | ||
| NM_000495.4:c.3940C>T | NP_000486.1:p.Pro1314Ser | |
| NM_033380.2:c.3958C>T | NP_203699.1:p.Pro1320Ser | |
| XM_005262070.2:c.3949C>T | XP_005262127.1:p.Pro1317Ser | |
| XM_006724616.2:c.3958C>T | XP_006724679.1:p.Pro1320Ser | |
| XM_011530849.1:c.3634C>T | XP_011529151.1:p.Pro1212Ser | |
| XM_011530851.1:c.1531C>T | XP_011529153.1:p.Pro511Ser | |
| XM_011530849.2:c.3973C>T | XP_011529151.2:p.Pro1325Ser | |
| XM_017029259.2:c.3964C>T | XP_016884748.1:p.Pro1322Ser | |
| XM_017029260.1:c.3955C>T | XP_016884749.1:p.Pro1319Ser | |
| XM_017029263.2:c.2293C>T | XP_016884752.1:p.Pro765Ser | |
| NM_000495.5:c.3940C>T | NP_000486.1:p.Pro1314Ser | |
| NM_033380.3:c.3958C>T MANE Select | NP_203699.1:p.Pro1320Ser |