Revel Score:
ENST00000374708
0.688
ENST00000341947 (MANE Select)
0.688
ENST00000357486
0.688
ENST00000374714
0.688
ENST00000374713
0.688
ENST00000395197
0.688
ENST00000374712
0.688
ENST00000361917
0.688
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00061502 (AMR)
Genomes Max Group AF
0.00035392 (AMR)
Exomes Max Group AF
0.00063009 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33176291T>A , CM000668.2:g.33176291T>A | GRCh38 |
| NC_000006.11:g.33144068T>A , CM000668.1:g.33144068T>A | GRCh37 |
| NC_000006.10:g.33252046T>A | NCBI36 |
| NG_011589.1:g.21178A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.755A>T | ||
| ENST00000341947.7:c.2182A>T MANE Select | ENSP00000339915.2:p.Ile728Phe | |
| ENST00000341947.6:c.2182A>T | ENSP00000339915.2:p.Ile728Phe | |
| ENST00000361917.5:c.1861A>T | ENSP00000355123.1:p.Ile621Phe | |
| ENST00000374708.8:c.1924A>T | ENSP00000363840.4:p.Ile642Phe | |
| ENST00000477772.1:n.272+718A>T | ||
| NM_080679.2:c.1861A>T | NP_542410.2:p.Ile621Phe | |
| NM_080680.2:c.2182A>T | NP_542411.2:p.Ile728Phe | |
| NM_080681.2:c.1924A>T | NP_542412.2:p.Ile642Phe | |
| XM_011514298.1:c.1336A>T | XP_011512600.1:p.Ile446Phe | |
| XM_011514299.1:c.1468A>T | XP_011512601.1:p.Ile490Phe | |
| XM_011514300.1:c.1288A>T | XP_011512602.1:p.Ile430Phe | |
| XM_011514301.1:c.1225A>T | XP_011512603.1:p.Ile409Phe | |
| XM_011514302.1:c.1069A>T | XP_011512604.1:p.Ile357Phe | |
| XM_011514299.2:c.1468A>T | XP_011512601.1:p.Ile490Phe | |
| XM_011514300.2:c.1288A>T | XP_011512602.1:p.Ile430Phe | |
| XM_011514302.2:c.1069A>T | XP_011512604.1:p.Ile357Phe | |
| XM_017010250.1:c.2182A>T | XP_016865739.1:p.Ile728Phe | |
| XM_017010251.2:c.1000A>T | XP_016865740.1:p.Ile334Phe | |
| NM_080680.3:c.2182A>T MANE Select | NP_542411.2:p.Ile728Phe | |
| NM_080681.3:c.1924A>T | NP_542412.2:p.Ile642Phe | |
| NM_080679.3:c.1861A>T | NP_542410.2:p.Ile621Phe |