gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10667833 (NFE)
Genomes Max Group AF
0.10667833 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55087316G>A , CM000666.2:g.55087316G>A | GRCh38 |
| NC_000004.11:g.55953483G>A , CM000666.1:g.55953483G>A | GRCh37 |
| NC_000004.10:g.55648240G>A | NCBI36 |
| NG_012004.1:g.43280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3662+291C>T MANE Select | ENSP00000263923.4:n.3662+291C>T | |
| ENST00000647068.1:n.3675+291C>T | ||
| ENST00000263923.4:c.3662+291C>T | ENSP00000263923.4:n.3662+291C>T | |
| NM_002253.2:c.3662+291C>T | NP_002244.1:n.3662+291C>T | |
| NM_002253.3:c.3662+291C>T | NP_002244.1:n.3662+291C>T | |
| NM_002253.4:c.3662+291C>T MANE Select | NP_002244.1:n.3662+291C>T |