Revel Score:
ENST00000261590 (MANE Select)
0.332
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002985 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541198C>T , CM000680.2:g.31541198C>T | GRCh38 |
| NC_000018.9:g.29121161C>T , CM000680.1:g.29121161C>T | GRCh37 |
| NC_000018.8:g.27375159C>T | NCBI36 |
| NG_007072.3:g.47957C>T , LRG_397:g.47957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1885C>T MANE Select | ENSP00000261590.8:p.Pro629Ser | |
| ENST00000261590.12:c.1885C>T | ENSP00000261590.8:p.Pro629Ser | |
| NM_001943.3:c.1885C>T , LRG_397t1:c.1885C>T | NP_001934.2:p.Pro629Ser | |
| NM_001943.4:c.1885C>T | NP_001934.2:p.Pro629Ser | |
| XM_024451095.1:c.1351C>T | XP_024306863.1:p.Pro451Ser | |
| NM_001943.5:c.1885C>T MANE Select | NP_001934.2:p.Pro629Ser |