Revel Score:
ENST00000460680 (MANE Select)
0.242
ENST00000296288
0.242
ENST00000478368
0.242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52402608G>C , CM000665.2:g.52402608G>C | GRCh38 |
| NC_000003.11:g.52436624G>C , CM000665.1:g.52436624G>C | GRCh37 |
| NC_000003.10:g.52411664G>C | NCBI36 |
| NG_031859.1:g.12386C>G , LRG_529:g.12386C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.2050C>G MANE Select | ENSP00000417132.1:p.Gln684Glu | |
| ENST00000296288.9:c.1996C>G | ENSP00000296288.5:p.Gln666Glu | |
| ENST00000460680.5:c.2050C>G | ENSP00000417132.1:p.Gln684Glu | |
| ENST00000466093.1:n.723C>G | ||
| ENST00000469613.5:c.249C>G | ||
| ENST00000478368.1:c.622C>G | ENSP00000420647.1:p.Gln208Glu | |
| NM_004656.3:c.2050C>G | NP_004647.1:p.Gln684Glu | |
| XM_011534149.1:c.2119C>G | XP_011532451.1:p.Gln707Glu | |
| XM_011534150.1:c.2074C>G | XP_011532452.1:p.Gln692Glu | |
| XM_011534151.1:c.2065C>G | XP_011532453.1:p.Gln689Glu | |
| XM_011534152.1:c.2005C>G | XP_011532454.1:p.Gln669Glu | |
| XM_011534149.3:c.2119C>G | XP_011532451.1:p.Gln707Glu | |
| XM_011534150.3:c.2074C>G | XP_011532452.1:p.Gln692Glu | |
| XM_011534151.3:c.2065C>G | XP_011532453.1:p.Gln689Glu | |
| XM_011534152.2:c.2005C>G | XP_011532454.1:p.Gln669Glu | |
| XM_017007303.2:c.1996C>G | XP_016862792.1:p.Gln666Glu | |
| NM_004656.4:c.2050C>G MANE Select | NP_004647.1:p.Gln684Glu |