Revel Score:
ENST00000258168 (MANE Select)
0.276
ENST00000425577
0.276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81268089A>C , CM000678.2:g.81268089A>C | GRCh38 |
| NC_000016.9:g.81301694A>C , CM000678.1:g.81301694A>C | GRCh37 |
| NC_000016.8:g.79859195A>C | NCBI36 |
| NG_012171.1:g.34399A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258168.7:c.801A>C MANE Select | ENSP00000258168.2:p.Arg267Ser | |
| ENST00000258168.6:c.801A>C | ENSP00000258168.2:p.Arg267Ser | |
| ENST00000563804.5:c.*425A>C | ENSP00000457910.1:n.*425A>C | |
| NM_017429.2:c.801A>C | NP_059125.2:p.Arg267Ser | |
| XM_011523109.1:c.801A>C | XP_011521411.1:p.Arg267Ser | |
| XM_011523110.1:c.252A>C | XP_011521412.1:p.Arg84Ser | |
| XM_011523109.2:c.801A>C | XP_011521411.1:p.Arg267Ser | |
| XM_017023286.2:c.801A>C | XP_016878775.1:p.Arg267Ser | |
| XM_017023287.2:c.801A>C | XP_016878776.1:p.Arg267Ser | |
| XM_017023288.2:c.801A>C | XP_016878777.1:p.Arg267Ser | |
| XM_017023289.1:c.24A>C | XP_016878778.1:p.Arg8Ser | |
| XR_002957813.1:n.1128A>C | ||
| NM_017429.3:c.801A>C MANE Select | NP_059125.2:p.Arg267Ser |