Revel Score:
ENST00000303236 (MANE Select)
0.145
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88613755G>T , CM000664.2:g.88613755G>T | GRCh38 |
| NC_000002.11:g.88913273G>T , CM000664.1:g.88913273G>T | GRCh37 |
| NC_000002.10:g.88694388G>T | NCBI36 |
| NG_016424.1:g.18822C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682892.1:c.-47C>A | ENSP00000507214.1:n.-47C>A | |
| ENST00000303236.9:c.407C>A MANE Select | ENSP00000307235.3:p.Ser136Tyr | |
| ENST00000652099.1:c.405C>A | ||
| ENST00000652423.1:c.*91C>A | ENSP00000498948.1:n.*91C>A | |
| ENST00000652736.1:n.283C>A | ||
| ENST00000303236.7:c.407C>A | ENSP00000307235.3:p.Ser136Tyr | |
| ENST00000419748.5:c.-47C>A | ENSP00000408325.1:n.-47C>A | |
| NM_001313915.1:c.-47C>A | NP_001300844.1:n.-47C>A | |
| NM_004836.5:c.407C>A | NP_004827.4:p.Ser136Tyr | |
| NM_004836.6:c.407C>A | NP_004827.4:p.Ser136Tyr | |
| XR_939749.1:n.616C>A | ||
| XM_017005376.2:c.-474C>A | XP_016860865.1:n.-474C>A | |
| NM_004836.7:c.407C>A MANE Select | NP_004827.4:p.Ser136Tyr | |
| NM_001313915.2:c.-47C>A | NP_001300844.1:n.-47C>A |