gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15815243 (MID)
Genomes Max Group AF
0.12429825 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29622701A>G , CM000685.2:g.29622701A>G | GRCh38 |
| NC_000023.10:g.29640818A>G , CM000685.1:g.29640818A>G | GRCh37 |
| NC_000023.9:g.29550739A>G | NCBI36 |
| NG_008292.1:g.1040138A>G | |
| NG_008292.2:g.1040138A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.704-45729A>G MANE Select | ENSP00000368278.1:n.704-45729A>G | |
| ENST00000378993.5:c.704-45729A>G | ENSP00000368278.1:n.704-45729A>G | |
| NM_014271.3:c.704-45729A>G | NP_055086.1:n.704-45729A>G | |
| XM_005274441.1:c.704-45729A>G | XP_005274498.1:n.704-45729A>G | |
| XM_011545445.1:c.704-45729A>G | XP_011543747.1:n.704-45729A>G | |
| XM_017029240.1:c.704-45729A>G | XP_016884729.1:n.704-45729A>G | |
| XM_017029241.1:c.326-45729A>G | XP_016884730.1:n.326-45729A>G | |
| NM_014271.4:c.704-45729A>G MANE Select | NP_055086.1:n.704-45729A>G |