Revel Score:
ENST00000374708
0.962
ENST00000341947 (MANE Select)
0.962
ENST00000357486
0.962
ENST00000374714
0.962
ENST00000374713
0.962
ENST00000395197
0.962
ENST00000374712
0.962
ENST00000361917
0.962
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007657 (NFE)
Genomes Max Group AF
0.00007299 (SAS)
Exomes Max Group AF
0.00007453 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33173400C>G , CM000668.2:g.33173400C>G | GRCh38 |
| NC_000006.11:g.33141177C>G , CM000668.1:g.33141177C>G | GRCh37 |
| NC_000006.10:g.33249155C>G | NCBI36 |
| NG_011589.1:g.24069G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1257G>C | ||
| ENST00000341947.7:c.2684G>C MANE Select | ENSP00000339915.2:p.Gly895Ala | |
| ENST00000341947.6:c.2684G>C | ENSP00000339915.2:p.Gly895Ala | |
| ENST00000361917.5:c.2363G>C | ENSP00000355123.1:p.Gly788Ala | |
| ENST00000374708.8:c.2426G>C | ENSP00000363840.4:p.Gly809Ala | |
| ENST00000477772.1:n.272+3609G>C | ||
| NM_080679.2:c.2363G>C | NP_542410.2:p.Gly788Ala | |
| NM_080680.2:c.2684G>C | NP_542411.2:p.Gly895Ala | |
| NM_080681.2:c.2426G>C | NP_542412.2:p.Gly809Ala | |
| XM_011514298.1:c.1838G>C | XP_011512600.1:p.Gly613Ala | |
| XM_011514299.1:c.1970G>C | XP_011512601.1:p.Gly657Ala | |
| XM_011514300.1:c.1790G>C | XP_011512602.1:p.Gly597Ala | |
| XM_011514301.1:c.1727G>C | XP_011512603.1:p.Gly576Ala | |
| XM_011514302.1:c.1571G>C | XP_011512604.1:p.Gly524Ala | |
| XM_011514299.2:c.1970G>C | XP_011512601.1:p.Gly657Ala | |
| XM_011514300.2:c.1790G>C | XP_011512602.1:p.Gly597Ala | |
| XM_011514302.2:c.1571G>C | XP_011512604.1:p.Gly524Ala | |
| XM_017010250.1:c.2684G>C | XP_016865739.1:p.Gly895Ala | |
| XM_017010251.2:c.1502G>C | XP_016865740.1:p.Gly501Ala | |
| NM_080680.3:c.2684G>C MANE Select | NP_542411.2:p.Gly895Ala | |
| NM_080681.3:c.2426G>C | NP_542412.2:p.Gly809Ala | |
| NM_080679.3:c.2363G>C | NP_542410.2:p.Gly788Ala |