Revel Score:
ENST00000250244 (MANE Select)
0.092
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000554 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10577253C>G , CM000681.2:g.10577253C>G | GRCh38 |
| NC_000019.9:g.10687929C>G , CM000681.1:g.10687929C>G | GRCh37 |
| NC_000019.8:g.10548929C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250244.11:c.992G>C MANE Select | ENSP00000250244.5:p.Ser331Thr | |
| ENST00000250244.10:c.992G>C | ENSP00000250244.5:p.Ser331Thr | |
| ENST00000587069.5:c.62G>C | ENSP00000465865.1:p.Ser21Thr | |
| ENST00000590923.5:c.998G>C | ENSP00000465685.1:p.Ser333Thr | |
| ENST00000592285.1:c.20G>C | ENSP00000468260.1:p.Ser7Thr | |
| NM_001300887.1:c.998G>C | NP_001287816.1:p.Ser333Thr | |
| NM_005498.4:c.992G>C | NP_005489.2:p.Ser331Thr | |
| XM_011527615.1:c.920G>C | XP_011525917.1:p.Ser307Thr | |
| XM_024451303.1:c.1232G>C | XP_024307071.1:p.Ser411Thr | |
| XM_024451304.1:c.1238G>C | XP_024307072.1:p.Ser413Thr | |
| NM_001300887.2:c.998G>C | NP_001287816.1:p.Ser333Thr | |
| NM_005498.5:c.992G>C MANE Select | NP_005489.2:p.Ser331Thr |