gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53912937 (NFE)
Genomes Max Group AF
0.53912937 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150887995C>T , CM000663.2:g.150887995C>T | GRCh38 |
| NC_000001.10:g.150860471C>T , CM000663.1:g.150860471C>T | GRCh37 |
| NC_000001.9:g.149127095C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636087.1:c.-74+682C>T MANE Select | ENSP00000490418.1:n.-74+682C>T | |
| XR_158744.3:n.61+682C>T | ||
| NR_148929.1:n.61+682C>T | ||
| NM_001384189.1:c.-74+682C>T | NP_001371118.1:n.-74+682C>T | |
| NM_001384189.2:c.-74+682C>T MANE Select | NP_001371118.1:n.-74+682C>T |