gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16007949 (AFR)
Genomes Max Group AF
0.16007949 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134398879G>T , CM000671.2:g.134398879G>T | GRCh38 |
| NC_000009.11:g.137290725G>T , CM000671.1:g.137290725G>T | GRCh37 |
| NC_000009.10:g.136430546G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.29-2753G>T MANE Select | ENSP00000419692.1:n.29-2753G>T | |
| ENST00000649020.1:c.119-2753G>T | ENSP00000497073.1:n.119-2753G>T | |
| ENST00000672570.1:c.-53-2753G>T | ENSP00000500402.1:n.-53-2753G>T | |
| ENST00000356384.4:n.294-2517G>T | ||
| ENST00000481739.1:c.29-2753G>T | ENSP00000419692.1:n.29-2753G>T | |
| ENST00000484822.1:n.453-2753G>T | ||
| NM_001291920.1:c.-53-2753G>T | NP_001278849.1:n.-53-2753G>T | |
| NM_002957.5:c.29-2753G>T | NP_002948.1:n.29-2753G>T | |
| NM_002957.6:c.29-2753G>T MANE Select | NP_002948.1:n.29-2753G>T | |
| NM_001291920.2:c.-53-2753G>T | NP_001278849.1:n.-53-2753G>T |