Revel Score:
ENST00000374708
0.988
ENST00000341947 (MANE Select)
0.988
ENST00000357486
0.988
ENST00000374714
0.988
ENST00000374713
0.988
ENST00000395197
0.988
ENST00000374712
0.988
ENST00000361917
0.988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33172564C>T , CM000668.2:g.33172564C>T | GRCh38 |
| NC_000006.11:g.33140341C>T , CM000668.1:g.33140341C>T | GRCh37 |
| NC_000006.10:g.33248319C>T | NCBI36 |
| NG_011589.1:g.24905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.2864G>A MANE Select | ENSP00000339915.2:p.Gly955Glu | |
| ENST00000341947.6:c.2864G>A | ENSP00000339915.2:p.Gly955Glu | |
| ENST00000361917.5:c.2543G>A | ENSP00000355123.1:p.Gly848Glu | |
| ENST00000374708.8:c.2606G>A | ENSP00000363840.4:p.Gly869Glu | |
| ENST00000477772.1:n.272+4445G>A | ||
| NM_080679.2:c.2543G>A | NP_542410.2:p.Gly848Glu | |
| NM_080680.2:c.2864G>A | NP_542411.2:p.Gly955Glu | |
| NM_080681.2:c.2606G>A | NP_542412.2:p.Gly869Glu | |
| XM_011514298.1:c.2018G>A | XP_011512600.1:p.Gly673Glu | |
| XM_011514299.1:c.2150G>A | XP_011512601.1:p.Gly717Glu | |
| XM_011514300.1:c.1970G>A | XP_011512602.1:p.Gly657Glu | |
| XM_011514301.1:c.1907G>A | XP_011512603.1:p.Gly636Glu | |
| XM_011514302.1:c.1751G>A | XP_011512604.1:p.Gly584Glu | |
| XM_011514299.2:c.2150G>A | XP_011512601.1:p.Gly717Glu | |
| XM_011514300.2:c.1970G>A | XP_011512602.1:p.Gly657Glu | |
| XM_011514302.2:c.1751G>A | XP_011512604.1:p.Gly584Glu | |
| XM_017010250.1:c.2864G>A | XP_016865739.1:p.Gly955Glu | |
| XM_017010251.2:c.1682G>A | XP_016865740.1:p.Gly561Glu | |
| NM_080680.3:c.2864G>A MANE Select | NP_542411.2:p.Gly955Glu | |
| NM_080681.3:c.2606G>A | NP_542412.2:p.Gly869Glu | |
| NM_080679.3:c.2543G>A | NP_542410.2:p.Gly848Glu |