Revel Score:
ENST00000396265
0.111
ENST00000337554 (MANE Select)
0.125
ENST00000329563
0.125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162827A>C , CM000684.2:g.43162827A>C | GRCh38 |
| NC_000022.10:g.43558833A>C , CM000684.1:g.43558833A>C | GRCh37 |
| NC_000022.9:g.41888777A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.346A>C MANE Select | ENSP00000338004.3:p.Ser116Arg | |
| ENST00000329563.8:c.346A>C | ENSP00000328973.4:p.Ser116Arg | |
| ENST00000337554.7:c.346A>C | ENSP00000338004.3:p.Ser116Arg | |
| ENST00000396265.4:c.346A>C | ENSP00000379563.4:p.Ser116Arg | |
| ENST00000583777.5:c.34A>C | ENSP00000463495.1:p.Ser12Arg | |
| NM_000714.5:c.346A>C | NP_000705.2:p.Ser116Arg | |
| NM_001256530.1:c.346A>C | NP_001243459.1:p.Ser116Arg | |
| NM_001256531.1:c.346A>C | NP_001243460.1:p.Ser116Arg | |
| NR_046308.1:n.255A>C | ||
| NM_000714.6:c.346A>C MANE Select | NP_000705.2:p.Ser116Arg | |
| NR_046308.2:n.210A>C |