Revel Score:
ENST00000295754 (MANE Select)
0.405
ENST00000359013
0.405
ENST00000439925
0.405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691471G>C , CM000665.2:g.30691471G>C | GRCh38 |
| NC_000003.11:g.30732963G>C , CM000665.1:g.30732963G>C | GRCh37 |
| NC_000003.10:g.30707967G>C | NCBI36 |
| NG_007490.1:g.89970G>C , LRG_779:g.89970G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1576G>C MANE Select | ENSP00000295754.5:p.Glu526Gln | |
| ENST00000672050.1:n.460G>C | ||
| ENST00000672866.1:n.3172G>C | ||
| ENST00000673203.1:n.454G>C | ||
| ENST00000295754.9:c.1576G>C | ENSP00000295754.5:p.Glu526Gln | |
| ENST00000359013.4:c.1651G>C | ENSP00000351905.4:p.Glu551Gln | |
| NM_001024847.2:c.1651G>C , LRG_779t1:c.1651G>C | NP_001020018.1:p.Glu551Gln | |
| NM_003242.5:c.1576G>C | NP_003233.4:p.Glu526Gln | |
| XM_011534043.1:c.1603G>C | XP_011532345.1:p.Glu535Gln | |
| XM_011534044.1:c.1528G>C | XP_011532346.1:p.Glu510Gln | |
| XM_011534045.1:c.1471G>C | XP_011532347.1:p.Glu491Gln | |
| XM_011534043.2:c.1603G>C | XP_011532345.1:p.Glu535Gln | |
| XM_011534045.3:c.1471G>C | XP_011532347.1:p.Glu491Gln | |
| XM_017007106.1:c.1471G>C | XP_016862595.1:p.Glu491Gln | |
| NM_003242.6:c.1576G>C MANE Select | NP_003233.4:p.Glu526Gln |