gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30370578 (AMR)
Genomes Max Group AF
0.30370578 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.83012030T>C , CM000673.2:g.83012030T>C | GRCh38 |
| NC_000011.9:g.82723072T>C , CM000673.1:g.82723072T>C | GRCh37 |
| NC_000011.8:g.82400720T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527633.6:c.-8-14706A>G MANE Select | ENSP00000435089.1:n.-8-14706A>G | |
| ENST00000260056.6:c.-8-14706A>G | ENSP00000260056.2:n.-8-14706A>G | |
| ENST00000524635.1:c.-130-14706A>G | ENSP00000436587.1:n.-130-14706A>G | |
| ENST00000526205.5:c.-8-14706A>G | ENSP00000432336.1:n.-8-14706A>G | |
| ENST00000527633.5:c.-8-14706A>G | ENSP00000435089.1:n.-8-14706A>G | |
| ENST00000528379.1:c.-8-14706A>G | ENSP00000434106.1:n.-8-14706A>G | |
| ENST00000530224.5:c.-8-14706A>G | ENSP00000436282.1:n.-8-14706A>G | |
| ENST00000531021.5:c.-8-14706A>G | ENSP00000434953.1:n.-8-14706A>G | |
| ENST00000533276.6:c.-8-14706A>G | ENSP00000434528.2:n.-8-14706A>G | |
| ENST00000533486.5:c.-8-14706A>G | ENSP00000435189.1:n.-8-14706A>G | |
| ENST00000534103.5:c.-8-14706A>G | ENSP00000435542.1:n.-8-14706A>G | |
| ENST00000534141.5:c.-8-14706A>G | ENSP00000434974.1:n.-8-14706A>G | |
| ENST00000612684.4:c.-8-14706A>G | ENSP00000478702.1:n.-8-14706A>G | |
| NM_001286059.1:c.-8-14706A>G | NP_001272988.1:n.-8-14706A>G | |
| NM_001286060.1:c.-8-14706A>G | NP_001272989.1:n.-8-14706A>G | |
| NM_001286061.1:c.-8-14706A>G | NP_001272990.1:n.-8-14706A>G | |
| NM_014488.4:c.-8-14706A>G | NP_055303.2:n.-8-14706A>G | |
| NM_001286060.2:c.-8-14706A>G MANE Select | NP_001272989.1:n.-8-14706A>G | |
| NM_001286059.2:c.-8-14706A>G | NP_001272988.1:n.-8-14706A>G | |
| NM_014488.5:c.-8-14706A>G | NP_055303.2:n.-8-14706A>G |