Revel Score:
ENST00000225171 (MANE Select)
0.691
ENST00000339758
0.691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811606C>T , CM000672.2:g.67811606C>T | GRCh38 |
| NC_000010.10:g.69571364C>T , CM000672.1:g.69571364C>T | GRCh37 |
| NC_000010.9:g.69241370C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.215G>A MANE Select | ENSP00000225171.2:p.Arg72Gln | |
| ENST00000225171.6:c.215G>A | ENSP00000225171.2:p.Arg72Gln | |
| ENST00000339758.7:c.215G>A | ENSP00000343575.6:p.Arg72Gln | |
| ENST00000480180.1:c.*234G>A | ENSP00000474804.1:n.*234G>A | |
| ENST00000480963.5:c.*135G>A | ENSP00000473979.1:n.*135G>A | |
| ENST00000483798.6:c.305G>A | ENSP00000474215.1:p.Arg102Gln | |
| NM_021800.2:c.215G>A | NP_068572.1:p.Arg72Gln | |
| NM_201262.1:c.215G>A | NP_957714.1:p.Arg72Gln | |
| XM_011539967.1:c.245G>A | XP_011538269.1:p.Arg82Gln | |
| XM_017016431.1:c.-32G>A | XP_016871920.1:n.-32G>A | |
| XM_017016432.2:c.-32G>A | XP_016871921.1:n.-32G>A | |
| NM_021800.3:c.215G>A MANE Select | NP_068572.1:p.Arg72Gln | |
| NM_201262.2:c.215G>A | NP_957714.1:p.Arg72Gln |