ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02459199 (AFR)
Genomes Max Group AF
0.02516225 (AFR)
Exomes Max Group AF
0.023018 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406553C>T , CM000663.2:g.2406553C>T | GRCh38 |
| NC_000001.10:g.2337992C>T , CM000663.1:g.2337992C>T | GRCh37 |
| NC_000001.9:g.2327852C>T | NCBI36 |
| NG_008342.1:g.11019G>A | |
| NG_016128.1:g.19779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.903G>A | ENSP00000288774.3:p.Arg301= | |
| ENST00000447513.7:c.843G>A MANE Select | ENSP00000407922.2:p.Arg281= | |
| ENST00000650293.1:c.797G>A | ||
| ENST00000288774.7:c.903G>A | ENSP00000288774.3:p.Arg301= | |
| ENST00000447513.6:c.843G>A | ENSP00000407922.2:p.Arg281= | |
| ENST00000507596.5:c.843G>A | ENSP00000424291.1:p.Arg281= | |
| ENST00000510434.1:c.*209G>A | ENSP00000423051.1:n.*209G>A | |
| NM_002617.3:c.843G>A | NP_002608.1:p.Arg281= | |
| NM_153818.1:c.903G>A | NP_722540.1:p.Arg301= | |
| XM_011541573.1:c.900G>A | XP_011539875.1:p.Arg300= | |
| XM_011541574.1:c.468G>A | XP_011539876.1:p.Arg156= | |
| XM_011541575.1:c.468G>A | XP_011539877.1:p.Arg156= | |
| XR_946666.1:n.959G>A | ||
| XR_946666.2:n.908G>A | ||
| NM_001374425.1:c.900G>A | NP_001361354.1:p.Arg300= | |
| NM_001374426.1:c.468G>A | NP_001361355.1:p.Arg156= | |
| NM_001374427.1:c.411G>A | NP_001361356.1:p.Arg137= | |
| NM_002617.4:c.843G>A MANE Select | NP_002608.1:p.Arg281= | |
| NM_153818.2:c.903G>A | NP_722540.1:p.Arg301= | |
| NR_164636.1:n.958G>A |