gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13531792 (AMR)
Genomes Max Group AF
0.13531792 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49368588C>T , CM000672.2:g.49368588C>T | GRCh38 |
| NC_000010.10:g.50576633C>T , CM000672.1:g.50576633C>T | GRCh37 |
| NC_000010.9:g.50246639C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374139.8:c.527-2207G>A MANE Select | ENSP00000363254.1:n.527-2207G>A | |
| ENST00000374139.6:c.527-2207G>A | ENSP00000363254.1:n.527-2207G>A | |
| ENST00000434016.2:c.527-2207G>A | ENSP00000401653.2:n.527-2207G>A | |
| NM_001276451.1:c.527-2207G>A | NP_001263380.1:n.527-2207G>A | |
| XM_011540089.1:c.632-2207G>A | XP_011538391.1:n.632-2207G>A | |
| XM_011540090.1:c.212-2207G>A | XP_011538392.1:n.212-2207G>A | |
| XM_011540089.3:c.632-2207G>A | XP_011538391.1:n.632-2207G>A | |
| NM_001276451.2:c.527-2207G>A MANE Select | NP_001263380.1:n.527-2207G>A |