Revel Score:
ENST00000366560 (MANE Select)
0.405
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241506015C>A , CM000663.2:g.241506015C>A | GRCh38 |
| NC_000001.10:g.241669315C>A , CM000663.1:g.241669315C>A | GRCh37 |
| NC_000001.9:g.239735938C>A | NCBI36 |
| NG_012338.1:g.18740G>T , LRG_504:g.18740G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1395G>T | ||
| ENST00000682162.1:c.921G>T | ENSP00000508203.1:n.921G>T | |
| ENST00000682567.1:n.969G>T | ||
| ENST00000683521.1:c.892G>T | ENSP00000506864.1:p.Ala298Ser | |
| ENST00000684161.1:n.2107G>T | ||
| ENST00000684483.1:c.*288G>T | ENSP00000507894.1:n.*288G>T | |
| ENST00000366560.4:c.892G>T MANE Select | ENSP00000355518.4:p.Ala298Ser | |
| ENST00000366560.3:c.892G>T | ENSP00000355518.3:p.Ala298Ser | |
| NM_000143.3:c.892G>T , LRG_504t1:c.892G>T | NP_000134.2:p.Ala298Ser | |
| XM_011544132.1:c.664G>T | XP_011542434.1:p.Ala222Ser | |
| XM_011544132.2:c.664G>T | XP_011542434.1:p.Ala222Ser | |
| NM_000143.4:c.892G>T MANE Select | NP_000134.2:p.Ala298Ser |