gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15343148 (AFR)
Genomes Max Group AF
0.15025881 (AFR)
Exomes Max Group AF
0.155192 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3572196C>T , CM000679.2:g.3572196C>T | GRCh38 |
| NC_000017.10:g.3475490C>T , CM000679.1:g.3475490C>T | GRCh37 |
| NC_000017.9:g.3422240C>T | NCBI36 |
| NG_029716.1:g.42216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000572705.2:c.2157G>A MANE Select | ENSP00000459962.1:p.Lys719= | |
| ENST00000650505.1:c.*638G>A | ENSP00000497337.1:n.*638G>A | |
| ENST00000310522.5:c.1977G>A | ENSP00000311692.5:p.Lys659= | |
| ENST00000399756.8:c.2157G>A | ENSP00000382659.4:p.Lys719= | |
| ENST00000399759.7:c.2157G>A | ENSP00000382661.3:p.Lys719= | |
| ENST00000425167.6:c.2190G>A | ENSP00000409627.2:p.Lys730= | |
| ENST00000571088.5:c.2157G>A | ENSP00000461007.1:p.Lys719= | |
| ENST00000572705.1:c.2157G>A | ENSP00000459962.1:p.Lys719= | |
| ENST00000574085.5:n.2244G>A | ||
| ENST00000576351.5:c.2127G>A | ENSP00000459042.1:p.Lys709= | |
| NM_018727.5:c.2157G>A | NP_061197.4:p.Lys719= | |
| NM_080704.3:c.2157G>A | NP_542435.2:p.Lys719= | |
| NM_080705.3:c.2157G>A | NP_542436.2:p.Lys719= | |
| NM_080706.3:c.2157G>A | NP_542437.2:p.Lys719= | |
| NM_080704.4:c.2157G>A MANE Select | NP_542435.2:p.Lys719= | |
| NM_080705.4:c.2157G>A | NP_542436.2:p.Lys719= |