Revel Score:
ENST00000374708
0.126
ENST00000341947 (MANE Select)
0.126
ENST00000357486
0.126
ENST00000374714
0.126
ENST00000374713
0.126
ENST00000395197
0.126
ENST00000374712
0.126
ENST00000361917
0.126
ENST00000395196
0.126
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024175 (NFE)
Genomes Max Group AF
0.00021813 (NFE)
Exomes Max Group AF
0.00023755 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164861G>C , CM000668.2:g.33164861G>C | GRCh38 |
| NC_000006.11:g.33132638G>C , CM000668.1:g.33132638G>C | GRCh37 |
| NC_000006.10:g.33240616G>C | NCBI36 |
| NG_011589.1:g.32608C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.660C>G | ||
| ENST00000341947.7:c.4854C>G MANE Select | ENSP00000339915.2:p.Asp1618Glu | |
| ENST00000341947.6:c.4854C>G | ENSP00000339915.2:p.Asp1618Glu | |
| ENST00000361917.5:c.4533C>G | ENSP00000355123.1:p.Asp1511Glu | |
| ENST00000374708.8:c.4596C>G | ENSP00000363840.4:p.Asp1532Glu | |
| ENST00000477772.1:n.644C>G | ||
| NM_080679.2:c.4533C>G | NP_542410.2:p.Asp1511Glu | |
| NM_080680.2:c.4854C>G | NP_542411.2:p.Asp1618Glu | |
| NM_080681.2:c.4596C>G | NP_542412.2:p.Asp1532Glu | |
| XM_011514298.1:c.4008C>G | XP_011512600.1:p.Asp1336Glu | |
| XM_011514299.1:c.4140C>G | XP_011512601.1:p.Asp1380Glu | |
| XM_011514300.1:c.3960C>G | XP_011512602.1:p.Asp1320Glu | |
| XM_011514301.1:c.3897C>G | XP_011512603.1:p.Asp1299Glu | |
| XM_011514302.1:c.3741C>G | XP_011512604.1:p.Asp1247Glu | |
| XM_011514299.2:c.4140C>G | XP_011512601.1:p.Asp1380Glu | |
| XM_011514300.2:c.3960C>G | XP_011512602.1:p.Asp1320Glu | |
| XM_011514302.2:c.3741C>G | XP_011512604.1:p.Asp1247Glu | |
| XM_017010250.1:c.4854C>G | XP_016865739.1:p.Asp1618Glu | |
| XM_017010251.2:c.3672C>G | XP_016865740.1:p.Asp1224Glu | |
| NM_080680.3:c.4854C>G MANE Select | NP_542411.2:p.Asp1618Glu | |
| NM_080681.3:c.4596C>G | NP_542412.2:p.Asp1532Glu | |
| NM_080679.3:c.4533C>G | NP_542410.2:p.Asp1511Glu |