gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50837878 (EAS)
Genomes Max Group AF
0.50837878 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48510834T>C , CM000681.2:g.48510834T>C | GRCh38 |
| NC_000019.9:g.49014091T>C , CM000681.1:g.49014091T>C | GRCh37 |
| NC_000019.8:g.53705903T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600059.6:c.77-242A>G MANE Select | ENSP00000472020.1:n.77-242A>G | |
| ENST00000647709.2:c.77-242A>G | ENSP00000496937.2:n.77-242A>G | |
| ENST00000650440.1:c.155-242A>G | ENSP00000497480.1:n.155-242A>G | |
| ENST00000673139.1:c.77-242A>G | ENSP00000500153.1:n.77-242A>G | |
| ENST00000270238.3:c.164-242A>G | ENSP00000270238.3:n.164-242A>G | |
| ENST00000600059.5:c.77-242A>G | ENSP00000472020.1:n.77-242A>G | |
| NM_001080434.1:c.164-242A>G | NP_001073903.1:n.164-242A>G | |
| XM_011526411.1:c.155-242A>G | XP_011524713.1:n.155-242A>G | |
| XM_011526412.1:c.122-242A>G | XP_011524714.1:n.122-242A>G | |
| XM_011526411.2:c.155-242A>G | XP_011524713.1:n.155-242A>G | |
| XM_011526412.2:c.122-242A>G | XP_011524714.1:n.122-242A>G | |
| NM_001080434.2:c.77-242A>G | NP_001073903.2:n.77-242A>G | |
| NM_001388485.1:c.77-242A>G MANE Select | NP_001375414.1:n.77-242A>G |