ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025366 (AFR)
Genomes Max Group AF
0.00007874 (AFR)
Exomes Max Group AF
0.0003951 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914941A>G , CM000673.2:g.68914941A>G | GRCh38 |
| NC_000011.9:g.68682409A>G , CM000673.1:g.68682409A>G | GRCh37 |
| NC_000011.8:g.68438985A>G | NCBI36 |
| NG_007976.1:g.16091A>G , LRG_250:g.16091A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.830A>G MANE Select | ENSP00000255078.4:p.Gln277Arg | |
| ENST00000539224.2:c.959A>G | ||
| ENST00000674955.1:c.830A>G | ENSP00000502463.1:p.Gln277Arg | |
| ENST00000675118.1:c.177A>G | ||
| ENST00000675119.1:c.119A>G | ENSP00000501861.1:p.Gln40Arg | |
| ENST00000675305.1:c.119A>G | ENSP00000502365.1:p.Gln40Arg | |
| ENST00000675464.1:c.119A>G | ENSP00000502650.1:p.Gln40Arg | |
| ENST00000675615.1:c.830A>G | ENSP00000502413.1:p.Gln277Arg | |
| ENST00000675683.1:c.217A>G | ||
| ENST00000676173.1:n.874A>G | ||
| ENST00000676228.1:c.*153A>G | ENSP00000502375.1:n.*153A>G | |
| ENST00000676239.1:n.144A>G | ||
| ENST00000255078.7:c.830A>G | ENSP00000255078.3:p.Gln277Arg | |
| NM_002180.2:c.830A>G , LRG_250t1:c.830A>G | NP_002171.2:p.Gln277Arg | |
| XM_005273974.2:c.-182A>G | XP_005274031.1:n.-182A>G | |
| XM_005273976.1:c.830A>G | XP_005274033.1:p.Gln277Arg | |
| XR_247198.1:n.932A>G | ||
| XR_949903.1:n.932A>G | ||
| XM_005273976.2:c.830A>G | XP_005274033.1:p.Gln277Arg | |
| XM_017017669.2:c.-182A>G | XP_016873158.1:n.-182A>G | |
| XM_017017670.2:c.-182A>G | XP_016873159.1:n.-182A>G | |
| XM_017017671.2:c.830A>G | XP_016873160.1:p.Gln277Arg | |
| XR_949903.3:n.928A>G | ||
| NM_002180.3:c.830A>G MANE Select | NP_002171.2:p.Gln277Arg |