Revel Score:
ENST00000556336
0.168
ENST00000557771
0.168
ENST00000400017 (MANE Select)
0.168
ENST00000206660
0.168
ENST00000382933
0.168
ENST00000555587
0.168
ENST00000307974
0.168
ENST00000557606
0.013
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07998703 (AFR)
Genomes Max Group AF
0.07621424 (AFR)
Exomes Max Group AF
0.08311388 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21343037A>G , CM000676.2:g.21343037A>G | GRCh38 |
| NC_000014.8:g.21811196A>G , CM000676.1:g.21811196A>G | GRCh37 |
| NC_000014.7:g.20881036A>G | NCBI36 |
| NG_008933.1:g.60061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.3341A>G MANE Select | ENSP00000382895.2:p.Asp1114Gly | |
| ENST00000382933.8:c.1319A>G | ENSP00000372391.4:p.Asp440Gly | |
| ENST00000400017.6:c.3341A>G | ENSP00000382895.2:p.Asp1114Gly | |
| ENST00000553927.1:n.2273A>G | ||
| ENST00000555322.5:c.1768A>G | ||
| ENST00000555489.5:c.1534A>G | ENSP00000451044.1:n.1534A>G | |
| ENST00000555587.5:c.1766A>G | ENSP00000451262.1:p.Asp589Gly | |
| ENST00000556336.5:c.2312A>G | ENSP00000450445.1:p.Asp771Gly | |
| ENST00000557606.1:c.274A>G | ||
| ENST00000557771.5:c.3227A>G | ENSP00000451219.1:p.Asp1076Gly | |
| NM_020366.3:c.3341A>G | NP_065099.3:p.Asp1114Gly | |
| XM_005267879.2:c.2270A>G | XP_005267936.1:p.Asp757Gly | |
| XM_005267880.2:c.2237A>G | XP_005267937.1:p.Asp746Gly | |
| XM_005267881.2:c.1718A>G | XP_005267938.1:p.Asp573Gly | |
| XM_011536978.1:c.2267A>G | XP_011535280.1:p.Asp756Gly | |
| XM_011536979.1:c.2054A>G | XP_011535281.1:p.Asp685Gly | |
| XM_011536980.1:c.1925A>G | XP_011535282.1:p.Asp642Gly | |
| XM_011536981.1:c.1775A>G | XP_011535283.1:p.Asp592Gly | |
| XM_011536982.1:c.1430A>G | XP_011535284.1:p.Asp477Gly | |
| XM_011536983.1:c.3308A>G | XP_011535285.1:p.Asp1103Gly | |
| XM_005267881.3:c.1718A>G | XP_005267938.1:p.Asp573Gly | |
| XM_017021473.1:c.1772A>G | XP_016876962.1:p.Asp591Gly | |
| XM_024449663.1:c.2264A>G | XP_024305431.1:p.Asp755Gly | |
| XM_024449664.1:c.1769A>G | XP_024305432.1:p.Asp590Gly | |
| XM_024449665.1:c.1427A>G | XP_024305433.1:p.Asp476Gly | |
| XM_024449666.1:c.1424A>G | XP_024305434.1:p.Asp475Gly | |
| NM_001377523.1:c.1319A>G | NP_001364452.1:p.Asp440Gly | |
| NM_001377948.1:c.2267A>G | NP_001364877.1:p.Asp756Gly | |
| NM_001377949.1:c.1427A>G | NP_001364878.1:p.Asp476Gly | |
| NM_001377950.1:c.1319A>G | NP_001364879.1:p.Asp440Gly | |
| NM_001377951.1:c.824A>G | NP_001364880.1:p.Asp275Gly | |
| NM_020366.4:c.3341A>G MANE Select | NP_065099.3:p.Asp1114Gly |