gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29274825 (AMR)
Genomes Max Group AF
0.29274825 (AMR)
Exomes Max Group AF
0.21215199 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164016A>C , CM000673.2:g.112164016A>C | GRCh38 |
| NC_000011.9:g.112034739A>C , CM000673.1:g.112034739A>C | GRCh37 |
| NC_000011.8:g.111539949A>C | NCBI36 |
| NG_028143.1:g.5102T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280357.12:c.-119T>G MANE Select | ENSP00000280357.7:n.-119T>G | |
| ENST00000280357.11:c.-119T>G | ENSP00000280357.7:n.-119T>G | |
| ENST00000524595.5:c.-119T>G | ENSP00000434561.1:n.-119T>G | |
| ENST00000525987.5:n.320-6403A>C | ||
| ENST00000528832.1:c.-140T>G | ENSP00000434161.1:n.-140T>G | |
| ENST00000531744.5:c.315-6403A>C | ENSP00000456957.1:n.315-6403A>C | |
| ENST00000532699.1:c.315-6403A>C | ENSP00000456434.1:n.315-6403A>C | |
| ENST00000533858.5:n.81T>G | ||
| ENST00000534225.1:n.78T>G | ||
| NM_001243211.1:c.-119T>G | NP_001230140.1:n.-119T>G | |
| NM_001562.3:c.-119T>G | NP_001553.1:n.-119T>G | |
| XM_011542805.1:c.-140T>G | XP_011541107.1:n.-140T>G | |
| XM_011542806.1:c.-140T>G | XP_011541108.1:n.-140T>G | |
| XM_011542806.2:c.-140T>G | XP_011541108.1:n.-140T>G | |
| NM_001562.4:c.-119T>G MANE Select | NP_001553.1:n.-119T>G | |
| NM_001243211.2:c.-119T>G | NP_001230140.1:n.-119T>G | |
| NM_001386420.1:c.-140T>G | NP_001373349.1:n.-140T>G |