Revel Score:
ENST00000336798
0.081
ENST00000339394 (MANE Select)
0.081
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.30874473G>C , CM000663.2:g.30874473G>C | GRCh38 |
| NC_000001.10:g.31347320G>C , CM000663.1:g.31347320G>C | GRCh37 |
| NC_000001.9:g.31119907G>C | NCBI36 |
| NG_013371.1:g.39161C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339394.7:c.986C>G MANE Select | ENSP00000344468.6:p.Thr329Arg | |
| ENST00000336798.11:c.812C>G | ENSP00000338346.7:p.Thr271Arg | |
| ENST00000339394.6:c.986C>G | ENSP00000344468.6:p.Thr329Arg | |
| NM_014654.3:c.986C>G | NP_055469.3:p.Thr329Arg | |
| XM_011542462.1:c.989C>G | XP_011540764.1:p.Thr330Arg | |
| XM_011542463.1:c.953C>G | XP_011540765.1:p.Thr318Arg | |
| XM_011542464.1:c.950C>G | XP_011540766.1:p.Thr317Arg | |
| XM_011542465.1:c.911C>G | XP_011540767.1:p.Thr304Arg | |
| XM_011542466.1:c.860C>G | XP_011540768.1:p.Thr287Arg | |
| XM_011542464.2:c.950C>G | XP_011540766.1:p.Thr317Arg | |
| NM_014654.4:c.986C>G MANE Select | NP_055469.3:p.Thr329Arg |