Revel Score:
ENST00000366560 (MANE Select)
0.855
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504057T>C , CM000663.2:g.241504057T>C | GRCh38 |
| NC_000001.10:g.241667357T>C , CM000663.1:g.241667357T>C | GRCh37 |
| NC_000001.9:g.239733980T>C | NCBI36 |
| NG_012338.1:g.20698A>G , LRG_504:g.20698A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1596A>G | ||
| ENST00000682162.1:c.1122A>G | ENSP00000508203.1:n.1122A>G | |
| ENST00000682567.1:n.1170A>G | ||
| ENST00000683521.1:c.1093A>G | ENSP00000506864.1:p.Ser365Gly | |
| ENST00000684161.1:n.2308A>G | ||
| ENST00000684483.1:c.*489A>G | ENSP00000507894.1:n.*489A>G | |
| ENST00000366560.4:c.1093A>G MANE Select | ENSP00000355518.4:p.Ser365Gly | |
| ENST00000366560.3:c.1093A>G | ENSP00000355518.3:p.Ser365Gly | |
| NM_000143.3:c.1093A>G , LRG_504t1:c.1093A>G | NP_000134.2:p.Ser365Gly | |
| XM_011544132.1:c.865A>G | XP_011542434.1:p.Ser289Gly | |
| XM_011544132.2:c.865A>G | XP_011542434.1:p.Ser289Gly | |
| NM_000143.4:c.1093A>G MANE Select | NP_000134.2:p.Ser365Gly |