gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5318182 (AFR)
Genomes Max Group AF
0.5318182 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.132168842G>A , CM000669.2:g.132168842G>A | GRCh38 |
| NC_000007.13:g.131853601G>A , CM000669.1:g.131853601G>A | GRCh37 |
| NC_000007.12:g.131504141G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321063.9:c.4018-270C>T MANE Select | ENSP00000323194.4:n.4018-270C>T | |
| ENST00000321063.8:c.4018-270C>T | ENSP00000323194.4:n.4018-270C>T | |
| ENST00000359827.7:c.4018-270C>T | ENSP00000352882.3:n.4018-270C>T | |
| NM_020911.1:c.4018-270C>T | NP_065962.1:n.4018-270C>T | |
| XM_005250686.3:c.4018-270C>T | XP_005250743.1:n.4018-270C>T | |
| XM_006716171.2:c.4018-270C>T | XP_006716234.1:n.4018-270C>T | |
| XR_927546.1:n.4229C>T | ||
| XM_005250686.5:c.4018-270C>T | XP_005250743.1:n.4018-270C>T | |
| XM_006716171.4:c.4018-270C>T | XP_006716234.1:n.4018-270C>T | |
| XM_017012779.1:c.3817-270C>T | XP_016868268.1:n.3817-270C>T | |
| XR_927546.2:n.4229C>T | ||
| NM_001393897.1:c.4018-270C>T | NP_001380826.1:n.4018-270C>T | |
| NM_020911.2:c.4018-270C>T MANE Select | NP_065962.1:n.4018-270C>T |