dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63252651 (AFR)
Genomes Max Group AF
0.63252651 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.53240422T>C , CM000670.2:g.53240422T>C | GRCh38 |
| NC_000008.10:g.54152982T>C , CM000670.1:g.54152982T>C | GRCh37 |
| NC_000008.9:g.54315535T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265572.8:c.258-5311A>G MANE Select | ENSP00000265572.3:n.258-5311A>G | |
| ENST00000673285.2:c.258-5311A>G | ENSP00000500765.2:n.258-5311A>G | |
| ENST00000265572.7:c.258-5311A>G | ENSP00000265572.3:n.258-5311A>G | |
| ENST00000520287.5:c.258-5311A>G | ENSP00000429706.1:n.258-5311A>G | |
| ENST00000522508.1:c.*80+2317A>G | ENSP00000428231.1:n.*80+2317A>G | |
| ENST00000612786.4:c.-11+2317A>G | ENSP00000483000.1:n.-11+2317A>G | |
| ENST00000613482.1:c.216-5311A>G | ENSP00000478453.1:n.216-5311A>G | |
| NM_000912.3:c.258-5311A>G | NP_000903.2:n.258-5311A>G | |
| NM_001282904.1:c.-11+2317A>G | NP_001269833.1:n.-11+2317A>G | |
| NM_000912.4:c.258-5311A>G | NP_000903.2:n.258-5311A>G | |
| NM_001318497.1:c.258-5311A>G | NP_001305426.1:n.258-5311A>G | |
| NM_000912.5:c.258-5311A>G MANE Select | NP_000903.2:n.258-5311A>G | |
| NM_001318497.2:c.258-5311A>G | NP_001305426.1:n.258-5311A>G | |
| NM_001282904.2:c.-11+2317A>G | NP_001269833.1:n.-11+2317A>G |