Revel Score:
ENST00000262624
0.221
ENST00000361922
0.221
ENST00000392213 (MANE Select)
0.221
ENST00000537831
0.221
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35295965C>A , CM000681.2:g.35295965C>A | GRCh38 |
| NC_000019.9:g.35786868C>A , CM000681.1:g.35786868C>A | GRCh37 |
| NC_000019.8:g.40478708C>A | NCBI36 |
| NG_034078.1:g.8880C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392213.8:c.399C>A MANE Select | ENSP00000376048.2:p.Ser133Arg | |
| ENST00000361922.8:c.399C>A | ENSP00000355234.4:p.Ser133Arg | |
| ENST00000392213.7:c.399C>A | ENSP00000376048.2:p.Ser133Arg | |
| ENST00000537831.2:c.324C>A | ENSP00000440695.1:p.Ser108Arg | |
| ENST00000595791.5:c.399C>A | ENSP00000473125.1:p.Ser133Arg | |
| ENST00000597035.5:c.176+223C>A | ENSP00000473245.1:n.176+223C>A | |
| ENST00000600291.5:c.324C>A | ENSP00000470772.1:p.Ser108Arg | |
| NM_001199216.1:c.324C>A | NP_001186145.1:p.Ser108Arg | |
| NM_002361.3:c.399C>A | NP_002352.1:p.Ser133Arg | |
| NM_080600.2:c.399C>A | NP_542167.1:p.Ser133Arg | |
| NM_002361.4:c.399C>A MANE Select | NP_002352.1:p.Ser133Arg | |
| NM_001199216.2:c.324C>A | NP_001186145.1:p.Ser108Arg | |
| NM_080600.3:c.399C>A | NP_542167.1:p.Ser133Arg |