Revel Score:
ENST00000521381 (MANE Select)
0.362
ENST00000521657
0.362
ENST00000396611
0.362
ENST00000274335
0.362
ENST00000320694
0.362
ENST00000336483
0.362
ENST00000523872
0.362
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68295269A>G , CM000667.2:g.68295269A>G | GRCh38 |
| NC_000005.9:g.67591097A>G , CM000667.1:g.67591097A>G | GRCh37 |
| NC_000005.8:g.67626853A>G | NCBI36 |
| NG_012849.2:g.84514A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320694.13:c.790A>G | ENSP00000323512.8:p.Asn264Asp | |
| ENST00000336483.10:c.880A>G | ENSP00000338554.5:p.Asn294Asp | |
| ENST00000517643.2:c.1690A>G | ENSP00000513333.1:p.Asn564Asp | |
| ENST00000517698.6:c.*660A>G | ENSP00000430424.1:n.*660A>G | |
| ENST00000521657.6:c.1690A>G | ENSP00000429277.1:p.Asn564Asp | |
| ENST00000522084.6:c.880A>G | ENSP00000429766.2:p.Asn294Asp | |
| ENST00000697457.1:c.1615A>G | ENSP00000513315.1:p.Asn539Asp | |
| ENST00000697458.1:c.1690A>G | ENSP00000513316.1:p.Asn564Asp | |
| ENST00000697460.1:c.1165A>G | ENSP00000513318.1:p.Asn389Asp | |
| ENST00000697461.1:c.1690A>G | ENSP00000513319.1:p.Asn564Asp | |
| ENST00000697462.1:c.880A>G | ENSP00000513320.1:p.Asn294Asp | |
| ENST00000697463.1:n.1331A>G | ||
| ENST00000697464.1:c.*656A>G | ENSP00000513322.1:n.*656A>G | |
| ENST00000697465.1:c.727A>G | ENSP00000513323.1:p.Asn243Asp | |
| ENST00000697466.1:c.697A>G | ENSP00000513324.1:p.Asn233Asp | |
| ENST00000697467.1:c.601A>G | ENSP00000513325.1:p.Asn201Asp | |
| ENST00000697468.1:c.673A>G | ENSP00000513326.1:p.Asn225Asp | |
| ENST00000697469.1:c.382A>G | ENSP00000513327.1:p.Asn128Asp | |
| ENST00000697470.1:c.286A>G | ENSP00000513328.1:p.Asn96Asp | |
| ENST00000697557.1:c.673A>G | ENSP00000513335.1:p.Asn225Asp | |
| ENST00000521381.6:c.1690A>G MANE Select | ENSP00000428056.1:p.Asn564Asp | |
| ENST00000320694.12:c.790A>G | ENSP00000323512.8:p.Asn264Asp | |
| ENST00000336483.9:c.880A>G | ENSP00000338554.5:p.Asn294Asp | |
| ENST00000517698.5:c.*660A>G | ENSP00000430424.1:n.*660A>G | |
| ENST00000518813.5:n.2233A>G | ||
| ENST00000520550.1:n.1089A>G | ||
| ENST00000521381.5:c.1690A>G | ENSP00000428056.1:p.Asn564Asp | |
| ENST00000521657.5:c.1690A>G | ENSP00000429277.1:p.Asn564Asp | |
| ENST00000523872.1:c.601A>G | ENSP00000430098.1:p.Asn201Asp | |
| NM_001242466.1:c.601A>G | NP_001229395.1:p.Asn201Asp | |
| NM_181504.3:c.880A>G | NP_852556.2:p.Asn294Asp | |
| NM_181523.2:c.1690A>G | NP_852664.1:p.Asn564Asp | |
| NM_181524.1:c.790A>G | NP_852665.1:p.Asn264Asp | |
| XM_005248542.2:c.1690A>G | XP_005248599.1:p.Asn564Asp | |
| XM_011543493.1:c.1363A>G | XP_011541795.1:p.Asn455Asp | |
| XM_005248542.3:c.1690A>G | XP_005248599.1:p.Asn564Asp | |
| XM_011543493.3:c.1363A>G | XP_011541795.1:p.Asn455Asp | |
| XM_017009585.2:c.1690A>G | XP_016865074.1:p.Asn564Asp | |
| XM_017009586.1:c.1417A>G | XP_016865075.1:p.Asn473Asp | |
| NM_181523.3:c.1690A>G MANE Select | NP_852664.1:p.Asn564Asp | |
| NM_001242466.2:c.601A>G | NP_001229395.1:p.Asn201Asp | |
| NM_181504.4:c.880A>G | NP_852556.2:p.Asn294Asp | |
| NM_181524.2:c.790A>G | NP_852665.1:p.Asn264Asp |