Revel Score:
ENST00000367781
0.445
ENST00000367782
0.445
ENST00000367780
0.445
ENST00000367779
0.445
ENST00000333360 (MANE Select)
0.445
ENST00000367777
0.445
ENST00000367775
0.445
ENST00000367776
0.445
ENST00000367774
0.445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169731917A>C , CM000663.2:g.169731917A>C | GRCh38 |
| NC_000001.10:g.169701058A>C , CM000663.1:g.169701058A>C | GRCh37 |
| NC_000001.9:g.167967682A>C | NCBI36 |
| NG_012124.1:g.7163T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333360.12:c.447T>G (SELE) MANE Select | ENSP00000331736.7:p.Ser149Arg | |
| ENST00000333360.11:c.447T>G (SELE) | ENSP00000331736.7:p.Ser149Arg | |
| ENST00000367774.1:c.447T>G (SELE) | ENSP00000356748.1:p.Ser149Arg | |
| ENST00000367775.5:c.447T>G (SELE) | ENSP00000356749.1:p.Ser149Arg | |
| ENST00000367776.5:c.447T>G (SELE) | ENSP00000356750.1:p.Ser149Arg | |
| ENST00000367777.5:c.447T>G (SELE) | ENSP00000356751.1:p.Ser149Arg | |
| ENST00000461085.1:n.130T>G (SELE) | ||
| ENST00000498289.5:n.851+47985A>C (FIRRM) | ||
| NM_000450.2:c.447T>G (SELE) MANE Select | NP_000441.2:p.Ser149Arg |