Revel Score:
ENST00000229771 (MANE Select)
0.926
ENST00000322263
0.926
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00022319 (EAS)
Exomes Max Group AF
0.00025256 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35503816A>G , CM000668.2:g.35503816A>G | GRCh38 |
| NC_000006.11:g.35471593A>G , CM000668.1:g.35471593A>G | GRCh37 |
| NC_000006.10:g.35579571A>G | NCBI36 |
| NG_009077.1:g.14055T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1145T>C MANE Select | ENSP00000229771.6:p.Phe382Ser | |
| ENST00000229771.10:c.1145T>C | ENSP00000229771.6:p.Phe382Ser | |
| ENST00000322263.8:c.986T>C | ENSP00000319414.4:p.Phe329Ser | |
| ENST00000373892.4:n.747T>C | ||
| ENST00000495781.1:n.321T>C | ||
| ENST00000496434.5:n.162T>C | ||
| ENST00000614066.4:c.1139T>C | ENSP00000477534.1:p.Phe380Ser | |
| NM_001289395.1:c.986T>C | NP_001276324.1:p.Phe329Ser | |
| NM_003322.4:c.1145T>C | NP_003313.3:p.Phe382Ser | |
| NM_003322.5:c.1145T>C | NP_003313.3:p.Phe382Ser | |
| NM_003322.6:c.1145T>C MANE Select | NP_003313.3:p.Phe382Ser | |
| NM_001289395.2:c.986T>C | NP_001276324.1:p.Phe329Ser |