gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99807775 (NFE)
Genomes Max Group AF
0.99357039 (NFE)
Exomes Max Group AF
0.99799809 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203868127A>G , CM000664.2:g.203868127A>G | GRCh38 |
| NC_000002.11:g.204732850A>G , CM000664.1:g.204732850A>G | GRCh37 |
| NC_000002.10:g.204441095A>G | NCBI36 |
| NG_011502.1:g.5342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.109+76A>G | ENSP00000512353.1:n.109+76A>G | |
| ENST00000696479.1:c.181+76A>G | ENSP00000512655.1:n.181+76A>G | |
| ENST00000648405.2:c.109+76A>G MANE Select | ENSP00000497102.1:n.109+76A>G | |
| ENST00000295854.10:c.109+76A>G | ENSP00000295854.6:n.109+76A>G | |
| ENST00000302823.7:c.109+76A>G | ENSP00000303939.3:n.109+76A>G | |
| ENST00000472206.1:c.109+76A>G | ENSP00000417779.1:n.109+76A>G | |
| ENST00000487393.1:n.109+76A>G | ||
| NM_001037631.2:c.109+76A>G | NP_001032720.1:n.109+76A>G | |
| NM_005214.4:c.109+76A>G | NP_005205.2:n.109+76A>G | |
| XR_241294.1:n.249+76A>G | ||
| NM_001037631.3:c.109+76A>G | NP_001032720.1:n.109+76A>G | |
| NM_005214.5:c.109+76A>G MANE Select | NP_005205.2:n.109+76A>G |