Revel Score:
ENST00000311161
0.119
ENST00000357440 (MANE Select)
0.119
ENST00000544554
0.119
ENST00000546034
0.119
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037607 (AFR)
Genomes Max Group AF
0.00031863 (AFR)
Exomes Max Group AF
0.00034043 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66371579C>A , CM000673.2:g.66371579C>A | GRCh38 |
| NC_000011.9:g.66139050C>A , CM000673.1:g.66139050C>A | GRCh37 |
| NC_000011.8:g.65895626C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357440.7:c.13G>T MANE Select | ENSP00000350024.2:p.Asp5Tyr | |
| ENST00000311161.11:c.13G>T | ENSP00000311250.7:p.Asp5Tyr | |
| ENST00000357440.6:c.13G>T | ENSP00000350024.2:p.Asp5Tyr | |
| ENST00000540386.5:c.13G>T | ENSP00000444870.1:p.Asp5Tyr | |
| ENST00000541567.5:c.13G>T | ENSP00000442116.1:p.Asp5Tyr | |
| ENST00000544554.5:c.13G>T | ENSP00000439456.1:p.Asp5Tyr | |
| ENST00000546034.1:c.13G>T | ENSP00000440329.1:p.Asp5Tyr | |
| ENST00000619145.4:c.13G>T | ENSP00000481944.1:p.Asp5Tyr | |
| NM_001300868.1:c.13G>T | NP_001287797.1:p.Asp5Tyr | |
| NM_001300869.1:c.13G>T | NP_001287798.1:p.Asp5Tyr | |
| NM_001532.2:c.13G>T | NP_001523.2:p.Asp5Tyr | |
| NR_125343.1:n.242G>T | ||
| XM_011544973.1:c.13G>T | XP_011543275.1:p.Asp5Tyr | |
| XM_011544974.1:c.13G>T | XP_011543276.1:p.Asp5Tyr | |
| XM_011544975.1:c.13G>T | XP_011543277.1:p.Asp5Tyr | |
| XM_011544976.1:c.13G>T | XP_011543278.1:p.Asp5Tyr | |
| XM_011544977.1:c.13G>T | XP_011543279.1:p.Asp5Tyr | |
| XM_011544978.1:c.13G>T | XP_011543280.1:p.Asp5Tyr | |
| XM_011544979.1:c.13G>T | XP_011543281.1:p.Asp5Tyr | |
| XM_011544980.1:c.13G>T | XP_011543282.1:p.Asp5Tyr | |
| XM_011544981.1:c.-283G>T | XP_011543283.1:n.-283G>T | |
| XM_011544982.1:c.13G>T | XP_011543284.1:p.Asp5Tyr | |
| XR_949900.1:n.785G>T | ||
| XM_017017632.1:c.13G>T | XP_016873121.1:p.Asp5Tyr | |
| XM_017017633.2:c.13G>T | XP_016873122.1:p.Asp5Tyr | |
| XM_017017636.2:c.13G>T | XP_016873125.1:p.Asp5Tyr | |
| XM_024448461.1:c.13G>T | XP_024304229.1:p.Asp5Tyr | |
| XM_024448462.1:c.-437G>T | XP_024304230.1:n.-437G>T | |
| XM_024448463.1:c.13G>T | XP_024304231.1:p.Asp5Tyr | |
| XM_024448464.1:c.13G>T | XP_024304232.1:p.Asp5Tyr | |
| XM_024448465.1:c.13G>T | XP_024304233.1:p.Asp5Tyr | |
| XR_001747842.1:n.393G>T | ||
| XR_001747844.2:n.771G>T | ||
| XR_001747845.2:n.771G>T | ||
| NM_001532.3:c.13G>T MANE Select | NP_001523.2:p.Asp5Tyr | |
| NM_001300868.2:c.13G>T | NP_001287797.1:p.Asp5Tyr | |
| NM_001300869.2:c.13G>T | NP_001287798.1:p.Asp5Tyr | |
| NR_125343.2:n.182G>T |