gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90960891 (EAS)
Genomes Max Group AF
0.90960891 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123303197A>G , CM000685.2:g.123303197A>G | GRCh38 |
| NC_000023.10:g.122437048A>G , CM000685.1:g.122437048A>G | GRCh37 |
| NC_000023.9:g.122264729A>G | NCBI36 |
| NG_009377.2:g.123955A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620443.2:c.509-22829A>G MANE Select | ENSP00000478489.1:n.509-22829A>G | |
| ENST00000622768.5:c.509-22829A>G MANE Plus Clinical | ENSP00000481554.1:n.509-22829A>G | |
| ENST00000541091.5:c.509-22829A>G | ENSP00000446440.2:n.509-22829A>G | |
| ENST00000620443.1:c.509-22829A>G | ENSP00000478489.1:n.509-22829A>G | |
| ENST00000620581.4:c.509-22829A>G | ENSP00000481875.1:n.509-22829A>G | |
| ENST00000622768.4:c.509-22829A>G | ENSP00000481554.1:n.509-22829A>G | |
| NM_000828.4:c.509-22829A>G | NP_000819.3:n.509-22829A>G | |
| NM_007325.4:c.509-22829A>G | NP_015564.4:n.509-22829A>G | |
| NM_007325.5:c.509-22829A>G MANE Select | NP_015564.5:n.509-22829A>G | |
| NM_000828.5:c.509-22829A>G MANE Plus Clinical | NP_000819.4:n.509-22829A>G |