gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27974876 (SAS)
Genomes Max Group AF
0.27974876 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70542196T>C , CM000664.2:g.70542196T>C | GRCh38 |
| NC_000002.11:g.70769328T>C , CM000664.1:g.70769328T>C | GRCh37 |
| NC_000002.10:g.70622836T>C | NCBI36 |
| NG_029975.1:g.16820A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295400.11:c.40+11532A>G MANE Select | ENSP00000295400.6:n.40+11532A>G | |
| ENST00000295400.10:c.40+11532A>G | ENSP00000295400.6:n.40+11532A>G | |
| ENST00000394241.3:c.40+11532A>G | ENSP00000377787.3:n.40+11532A>G | |
| ENST00000418333.6:c.40+11532A>G | ENSP00000404099.2:n.40+11532A>G | |
| ENST00000444975.5:c.58+10988A>G | ENSP00000404131.1:n.58+10988A>G | |
| ENST00000445399.5:c.40+11532A>G | ENSP00000387493.1:n.40+11532A>G | |
| ENST00000450929.5:c.58+10988A>G | ENSP00000414127.1:n.58+10988A>G | |
| ENST00000460808.5:n.99+11532A>G | ||
| ENST00000474101.1:n.93+11905A>G | ||
| NM_001099691.2:c.40+11532A>G | NP_001093161.1:n.40+11532A>G | |
| NM_001308158.1:c.58+10988A>G | NP_001295087.1:n.58+10988A>G | |
| NM_001308159.1:c.58+10988A>G | NP_001295088.1:n.58+10988A>G | |
| NM_003236.3:c.40+11532A>G | NP_003227.1:n.40+11532A>G | |
| NM_003236.4:c.40+11532A>G MANE Select | NP_003227.1:n.40+11532A>G | |
| NM_001099691.3:c.40+11532A>G | NP_001093161.1:n.40+11532A>G | |
| NM_001308158.2:c.58+10988A>G | NP_001295087.1:n.58+10988A>G | |
| NM_001308159.2:c.58+10988A>G | NP_001295088.1:n.58+10988A>G |