Revel Score:
ENST00000332351
0.090
ENST00000452863 (MANE Select)
0.090
ENST00000448076
0.090
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32435201T>G , CM000673.2:g.32435201T>G | GRCh38 |
| NC_000011.9:g.32456747T>G , CM000673.1:g.32456747T>G | GRCh37 |
| NC_000011.8:g.32413323T>G | NCBI36 |
| NG_009272.1:g.5341A>C , LRG_525:g.5341A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.160A>C | ENSP00000331327.5:p.Ser54Arg | |
| ENST00000379077.9:c.160A>C | ENSP00000368368.5:p.Ser54Arg | |
| ENST00000448076.9:c.160A>C | ENSP00000413452.5:p.Ser54Arg | |
| ENST00000452863.10:c.160A>C MANE Select | ENSP00000415516.5:p.Ser54Arg | |
| ENST00000639563.3:c.160A>C | ENSP00000492269.3:p.Ser54Arg | |
| ENST00000332351.7:c.145A>C | ENSP00000331327.3:p.Ser49Arg | |
| ENST00000379077.7:c.145A>C | ENSP00000368368.3:p.Ser49Arg | |
| ENST00000448076.7:c.145A>C | ENSP00000413452.3:p.Ser49Arg | |
| ENST00000452863.7:c.145A>C | ENSP00000415516.3:p.Ser49Arg | |
| NM_000378.4:c.145A>C | NP_000369.3:p.Ser49Arg | |
| NM_024424.3:c.145A>C | NP_077742.2:p.Ser49Arg | |
| NM_024426.4:c.145A>C | NP_077744.3:p.Ser49Arg | |
| NM_000378.5:c.160A>C | NP_000369.4:p.Ser54Arg | |
| NM_024424.4:c.160A>C | NP_077742.3:p.Ser54Arg | |
| NM_024426.5:c.160A>C | NP_077744.4:p.Ser54Arg | |
| NR_160306.1:n.339A>C | ||
| NM_000378.6:c.160A>C | NP_000369.4:p.Ser54Arg | |
| NM_024424.5:c.160A>C | NP_077742.3:p.Ser54Arg | |
| NM_024426.6:c.160A>C MANE Select | NP_077744.4:p.Ser54Arg |