gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15672741 (AFR)
Genomes Max Group AF
0.15672741 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.156689208G>T , CM000665.2:g.156689208G>T | GRCh38 |
| NC_000003.11:g.156406997G>T , CM000665.1:g.156406997G>T | GRCh37 |
| NC_000003.10:g.157889691G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295924.12:c.918-4812G>T MANE Select | ENSP00000295924.7:n.918-4812G>T | |
| ENST00000295924.11:c.918-4812G>T | ENSP00000295924.7:n.918-4812G>T | |
| ENST00000461166.5:c.918-4812G>T | ENSP00000420612.1:n.918-4812G>T | |
| ENST00000473702.5:c.918-4812G>T | ENSP00000419982.1:n.918-4812G>T | |
| ENST00000481853.5:c.918-4812G>T | ENSP00000418829.1:n.918-4812G>T | |
| ENST00000486483.5:c.918-4812G>T | ENSP00000418757.1:n.918-4812G>T | |
| ENST00000495891.1:c.25-4812G>T | ||
| ENST00000542783.5:c.918-4812G>T | ENSP00000438345.1:n.918-4812G>T | |
| NM_001184717.1:c.918-4812G>T | NP_001171646.1:n.918-4812G>T | |
| NM_001184718.1:c.918-4812G>T | NP_001171647.1:n.918-4812G>T | |
| NM_015508.4:c.918-4812G>T | NP_056323.2:n.918-4812G>T | |
| XM_011512668.1:c.918-4812G>T | XP_011510970.1:n.918-4812G>T | |
| NM_015508.5:c.918-4812G>T MANE Select | NP_056323.2:n.918-4812G>T | |
| NM_001184718.2:c.918-4812G>T | NP_001171647.1:n.918-4812G>T |