Revel Score:
ENST00000328736
0.121
ENST00000556564 (MANE Select)
0.121
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49745845 (AFR)
Genomes Max Group AF
0.49078691 (AFR)
Exomes Max Group AF
0.50179608 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88472308A>G , CM000676.2:g.88472308A>G | GRCh38 |
| NC_000014.8:g.88938652A>G , CM000676.1:g.88938652A>G | GRCh37 |
| NC_000014.7:g.88008405A>G | NCBI36 |
| NG_046949.1:g.87472T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556564.6:c.2807T>C MANE Select | ENSP00000452414.1:p.Val936Ala | |
| ENST00000328736.7:c.2807T>C | ENSP00000330276.3:p.Val936Ala | |
| ENST00000536337.5:c.*2744T>C | ENSP00000443951.1:n.*2744T>C | |
| ENST00000554270.5:n.2920T>C | ||
| ENST00000556564.5:c.2807T>C | ENSP00000452414.1:p.Val936Ala | |
| ENST00000557249.1:n.426T>C | ||
| NM_007039.3:c.2807T>C | NP_008970.2:p.Val936Ala | |
| XM_005267287.1:c.2807T>C | XP_005267344.1:p.Val936Ala | |
| XM_006720011.2:c.2438T>C | XP_006720074.1:p.Val813Ala | |
| XM_011536367.1:c.2807T>C | XP_011534669.1:p.Val936Ala | |
| XM_011536368.1:c.2438T>C | XP_011534670.1:p.Val813Ala | |
| XM_011536369.1:c.2195T>C | XP_011534671.1:p.Val732Ala | |
| XM_005267287.3:c.2807T>C | XP_005267344.1:p.Val936Ala | |
| XM_006720011.3:c.2438T>C | XP_006720074.1:p.Val813Ala | |
| XM_011536367.3:c.2807T>C | XP_011534669.1:p.Val936Ala | |
| XM_011536368.2:c.2438T>C | XP_011534670.1:p.Val813Ala | |
| XM_011536369.2:c.2195T>C | XP_011534671.1:p.Val732Ala | |
| XM_017020938.2:c.2438T>C | XP_016876427.1:p.Val813Ala | |
| XM_017020939.1:c.2195T>C | XP_016876428.1:p.Val732Ala | |
| NM_007039.4:c.2807T>C MANE Select | NP_008970.2:p.Val936Ala |