ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00251308 (EAS)
Genomes Max Group AF
0.00179146 (EAS)
Exomes Max Group AF
0.00249002 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155293234A>G , CM000663.2:g.155293234A>G | GRCh38 |
| NC_000001.10:g.155263025A>G , CM000663.1:g.155263025A>G | GRCh37 |
| NC_000001.9:g.153529649A>G | NCBI36 |
| NG_011677.1:g.13201T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1379T>C MANE Select | ENSP00000339933.4:p.Val460Ala | |
| ENST00000342741.4:c.1379T>C | ENSP00000339933.4:p.Val460Ala | |
| ENST00000392414.7:c.1286T>C | ENSP00000376214.3:p.Val429Ala | |
| NM_000298.5:c.1379T>C | NP_000289.1:p.Val460Ala | |
| NM_181871.3:c.1286T>C | NP_870986.1:p.Val429Ala | |
| XM_005245266.3:c.1538T>C | XP_005245323.1:p.Val513Ala | |
| XM_006711386.2:c.1187T>C | XP_006711449.1:p.Val396Ala | |
| XM_011509640.1:c.1187T>C | XP_011507942.1:p.Val396Ala | |
| NM_000298.6:c.1379T>C MANE Select | NP_000289.1:p.Val460Ala | |
| XM_006711386.4:c.1187T>C | XP_006711449.1:p.Val396Ala | |
| XM_011509640.3:c.1187T>C | XP_011507942.1:p.Val396Ala | |
| NM_181871.4:c.1286T>C | NP_870986.1:p.Val429Ala |