Revel Score:
ENST00000366560 (MANE Select)
0.892
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241513661T>G , CM000663.2:g.241513661T>G | GRCh38 |
| NC_000001.10:g.241676961T>G , CM000663.1:g.241676961T>G | GRCh37 |
| NC_000001.9:g.239743584T>G | NCBI36 |
| NG_012338.1:g.11094A>C , LRG_504:g.11094A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.823A>C | ||
| ENST00000682162.1:c.349A>C | ENSP00000508203.1:n.349A>C | |
| ENST00000682567.1:n.397A>C | ||
| ENST00000683521.1:c.320A>C | ENSP00000506864.1:p.Asn107Thr | |
| ENST00000684483.1:c.320A>C | ENSP00000507894.1:p.Asn107Thr | |
| ENST00000366560.4:c.320A>C MANE Select | ENSP00000355518.4:p.Asn107Thr | |
| ENST00000366560.3:c.320A>C | ENSP00000355518.3:p.Asn107Thr | |
| ENST00000497042.1:n.16A>C | ||
| NM_000143.3:c.320A>C , LRG_504t1:c.320A>C | NP_000134.2:p.Asn107Thr | |
| XM_011544132.1:c.92A>C | XP_011542434.1:p.Asn31Thr | |
| XM_011544132.2:c.92A>C | XP_011542434.1:p.Asn31Thr | |
| NM_000143.4:c.320A>C MANE Select | NP_000134.2:p.Asn107Thr |