gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02869629 (NFE)
Genomes Max Group AF
0.02869629 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186679872C>T , CM000663.2:g.186679872C>T | GRCh38 |
| NC_000001.10:g.186649004C>T , CM000663.1:g.186649004C>T | GRCh37 |
| NC_000001.9:g.184915627C>T | NCBI36 |
| NG_028206.2:g.5556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.52+367G>A MANE Select | ENSP00000356438.5:n.52+367G>A | |
| ENST00000680451.1:c.52+367G>A | ENSP00000506242.1:n.52+367G>A | |
| ENST00000681605.1:c.52+367G>A | ENSP00000504900.1:n.52+367G>A | |
| ENST00000367468.9:c.52+367G>A | ENSP00000356438.5:n.52+367G>A | |
| ENST00000490885.6:n.185+367G>A | ||
| ENST00000559627.1:c.52+367G>A | ENSP00000454130.1:n.52+367G>A | |
| ENST00000559800.1:n.185+367G>A | ||
| NM_000963.3:c.52+367G>A | NP_000954.1:n.52+367G>A | |
| NM_000963.4:c.52+367G>A MANE Select | NP_000954.1:n.52+367G>A |