gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000281 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55206391T>G , CM000669.2:g.55206391T>G | GRCh38 |
| NC_000007.13:g.55274084T>G , CM000669.1:g.55274084T>G | GRCh37 |
| NC_000007.12:g.55241578T>G | NCBI36 |
| NG_007726.3:g.192360T>G , LRG_304:g.192360T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.*774T>G | ENSP00000413354.2:n.*774T>G | |
| ENST00000700146.1:n.2151T>G | ||
| ENST00000275493.7:c.*774T>G MANE Select | ENSP00000275493.2:n.*774T>G | |
| ENST00000275493.6:c.*774T>G | ENSP00000275493.2:n.*774T>G | |
| ENST00000442591.5:c.*28+33463T>G | ENSP00000410031.1:n.*28+33463T>G | |
| ENST00000454757.6:c.*774T>G | ENSP00000395243.3:n.*774T>G | |
| NM_005228.3:c.*774T>G , LRG_304t1:c.*774T>G | NP_005219.2:n.*774T>G | |
| NM_001346899.1:c.*774T>G | NP_001333828.1:n.*774T>G | |
| NM_001346900.1:c.*774T>G | NP_001333829.1:n.*774T>G | |
| NM_001346941.1:c.*774T>G | NP_001333870.1:n.*774T>G | |
| NM_005228.4:c.*774T>G | NP_005219.2:n.*774T>G | |
| NM_005228.5:c.*774T>G MANE Select | NP_005219.2:n.*774T>G | |
| NM_001346900.2:c.*774T>G | NP_001333829.1:n.*774T>G | |
| NM_001346941.2:c.*774T>G | NP_001333870.1:n.*774T>G | |
| NM_001346899.2:c.*774T>G | NP_001333828.1:n.*774T>G |