gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07424786 (AMR)
Genomes Max Group AF
0.07424786 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114349147G>T , CM000669.2:g.114349147G>T | GRCh38 |
| NC_000007.13:g.113989202G>T , CM000669.1:g.113989202G>T | GRCh37 |
| NC_000007.12:g.113776438G>T | NCBI36 |
| NG_007491.2:g.267838G>T | |
| NG_007491.3:g.267838G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703612.1:c.-11+61038G>T | ENSP00000515396.1:n.-11+61038G>T | |
| ENST00000703613.1:c.-11+61038G>T | ENSP00000515397.1:n.-11+61038G>T | |
| ENST00000703614.1:c.-11+61038G>T | ENSP00000515398.1:n.-11+61038G>T | |
| ENST00000703615.1:c.-11+61038G>T | ENSP00000515399.1:n.-11+61038G>T | |
| ENST00000703616.1:c.-11+61038G>T | ENSP00000515400.1:n.-11+61038G>T | |
| ENST00000412402.5:c.-11+61038G>T | ENSP00000405470.1:n.-11+61038G>T | |
| ENST00000440349.5:c.-11+61038G>T | ENSP00000395552.1:n.-11+61038G>T | |
| ENST00000441290.6:c.-146-17358G>T | ENSP00000416825.1:n.-146-17358G>T | |
| ENST00000495516.1:n.341+61038G>T | ||
| ENST00000634411.1:c.-11+61038G>T | ENSP00000489135.1:n.-11+61038G>T | |
| ENST00000634623.1:c.-11+61038G>T | ENSP00000488944.1:n.-11+61038G>T | |
| ENST00000635109.1:c.-11+61038G>T | ENSP00000489457.1:n.-11+61038G>T | |
| ENST00000635638.1:c.-11+61038G>T | ENSP00000489073.1:n.-11+61038G>T | |
| NR_033766.1:n.393+61038G>T | ||
| XM_011516706.1:c.-11+29077G>T | XP_011515008.1:n.-11+29077G>T | |
| XM_017012801.2:c.-11+61038G>T | XP_016868290.1:n.-11+61038G>T | |
| NR_033766.2:n.376+61038G>T |