Revel Score:
ENST00000262017
0.756
ENST00000435993
0.756
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024064 (EAS)
Exomes Max Group AF
0.00025244 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47292175C>T , CM000679.2:g.47292175C>T | GRCh38 |
| NC_000017.10:g.45369541C>T , CM000679.1:g.45369541C>T | GRCh37 |
| NC_000017.9:g.42724540C>T | NCBI36 |
| NG_008332.2:g.43334C>T , LRG_481:g.43334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.1297C>T | ENSP00000513002.1:p.Pro433Ser | |
| ENST00000559488.7:c.1297C>T MANE Select | ENSP00000452786.2:p.Pro433Ser | |
| ENST00000559488.5:c.1297C>T | ENSP00000452786.1:p.Pro433Ser | |
| ENST00000560629.1:c.1262C>T | ||
| NM_000212.2:c.1297C>T , LRG_481t1:c.1297C>T | NP_000203.2:p.Pro433Ser | |
| NM_000212.3:c.1297C>T MANE Select | NP_000203.2:p.Pro433Ser |