Revel Score:
ENST00000399271
0.212
ENST00000282478
0.212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87614847A>C , CM000666.2:g.87614847A>C | GRCh38 |
| NC_000004.11:g.88535999A>C , CM000666.1:g.88535999A>C | GRCh37 |
| NC_000004.10:g.88755023A>C | NCBI36 |
| NG_011595.1:g.11319A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.2185A>C MANE Select | ENSP00000498766.1:p.Ser729Arg | |
| ENST00000282478.7:c.2185A>C | ENSP00000282478.7:p.Ser729Arg | |
| ENST00000399271.5:c.2185A>C | ENSP00000382213.1:p.Ser729Arg | |
| NM_014208.3:c.2185A>C MANE Select | NP_055023.2:p.Ser729Arg |