COSMIC:
COSM5415183 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00692529 (NFE)
Genomes Max Group AF
0.00601401 (NFE)
Exomes Max Group AF
0.00695418 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149784224C>T , CM000663.2:g.149784224C>T | GRCh38 |
| NC_000001.10:g.149755780C>T , CM000663.1:g.149755780C>T | GRCh37 |
| NC_000001.9:g.148022404C>T | NCBI36 |
| NG_007578.1:g.6493C>T , LRG_59:g.6493C>T | |
| NG_033089.1:g.33149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369168.5:c.274C>T (FCGR1A) MANE Select | ENSP00000358165.4:p.Arg92Ter | |
| ENST00000369168.4:c.274C>T (FCGR1A) | ENSP00000358165.4:p.Arg92Ter | |
| ENST00000420462.1:n.76-964G>A (H2BC18) | ||
| ENST00000444948.5:c.31+1450C>T (FCGR1A) | ENSP00000394279.1:n.31+1450C>T | |
| ENST00000545683.1:c.378-964G>A (H2BC18) | ENSP00000445831.1:n.378-964G>A | |
| NM_000566.3:c.274C>T , LRG_59t1:c.274C>T (FCGR1A) | NP_000557.1:p.Arg92Ter | |
| NM_001161334.1:c.378-964G>A (H2BC18) | NP_001154806.1:n.378-964G>A | |
| XM_005244957.2:c.277C>T (FCGR1A) | XP_005245014.1:p.Arg93Ter | |
| XM_005244958.3:c.31+1450C>T (FCGR1A) | XP_005245015.1:n.31+1450C>T | |
| XM_006711337.2:c.377+27723G>A (H2BC18) | XP_006711400.1:n.377+27723G>A | |
| XM_005244957.3:c.277C>T (FCGR1A) | XP_005245014.1:p.Arg93Ter | |
| XM_005244958.5:c.31+1450C>T (FCGR1A) | XP_005245015.1:n.31+1450C>T | |
| NM_000566.4:c.274C>T (FCGR1A) MANE Select | NP_000557.1:p.Arg92Ter | |
| NM_001161334.2:c.378-964G>A (H2BC18) | NP_001154806.1:n.378-964G>A | |
| NM_001378804.1:c.277C>T (FCGR1A) | NP_001365733.1:p.Arg93Ter | |
| NM_001378805.1:c.253C>T (FCGR1A) | NP_001365734.1:p.Arg85Ter | |
| NM_001378806.1:c.274C>T (FCGR1A) | NP_001365735.1:p.Arg92Ter | |
| NM_001378807.1:c.205C>T (FCGR1A) | NP_001365736.1:p.Arg69Ter | |
| NM_001378808.1:c.274C>T (FCGR1A) | NP_001365737.1:p.Arg92Ter | |
| NM_001378809.1:c.52+1034C>T (FCGR1A) | NP_001365738.1:n.52+1034C>T | |
| NM_001378810.1:c.31+1450C>T (FCGR1A) | NP_001365739.1:n.31+1450C>T | |
| NM_001378811.1:c.31+1450C>T (FCGR1A) | NP_001365740.1:n.31+1450C>T | |
| NR_166121.1:n.324C>T (FCGR1A) | ||
| NR_166122.1:n.324C>T (FCGR1A) | ||
| NR_166123.1:n.324C>T (FCGR1A) |