gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38984914 (MID)
Genomes Max Group AF
0.3830533 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113116890T>C , CM000664.2:g.113116890T>C | GRCh38 |
| NC_000002.11:g.113874467T>C , CM000664.1:g.113874467T>C | GRCh37 |
| NC_000002.10:g.113590938T>C | NCBI36 |
| NG_021240.1:g.3998T>C , LRG_188:g.3998T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-3176T>C | ENSP00000387210.1:n.-272-3176T>C | |
| ENST00000465812.6:n.647-647T>C | ||
| ENST00000409052.5:c.-272-3176T>C | ENSP00000387210.1:n.-272-3176T>C | |
| ENST00000465812.5:n.372-647T>C | ||
| XM_011511121.1:c.-272-3176T>C | XP_011509423.1:n.-272-3176T>C |