gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6441882 (AFR)
Genomes Max Group AF
0.63719019 (AFR)
Exomes Max Group AF
0.64841115 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16044465T>C , CM000678.2:g.16044465T>C | GRCh38 |
| NC_000016.9:g.16138322T>C , CM000678.1:g.16138322T>C | GRCh37 |
| NC_000016.8:g.16045823T>C | NCBI36 |
| NG_028268.1:g.99889T>C | |
| NG_028268.2:g.99889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.825T>C | ENSP00000382340.4:p.Val275= | |
| ENST00000399410.8:c.825T>C MANE Select | ENSP00000382342.3:p.Val275= | |
| ENST00000572882.3:c.825T>C | ENSP00000461615.2:p.Val275= | |
| ENST00000574224.2:n.900T>C | ||
| ENST00000677164.1:c.699T>C | ENSP00000502873.1:p.Val233= | |
| ENST00000678422.1:c.825T>C | ENSP00000503954.1:p.Val275= | |
| ENST00000679043.1:n.777T>C | ||
| ENST00000399408.6:c.-154T>C | ENSP00000382340.3:n.-154T>C | |
| ENST00000399410.7:c.825T>C | ENSP00000382342.3:p.Val275= | |
| ENST00000572882.2:c.520T>C | ||
| ENST00000574224.1:n.425T>C | ||
| NM_004996.3:c.825T>C | NP_004987.2:p.Val275= | |
| XM_011522497.1:c.801T>C | XP_011520799.1:p.Val267= | |
| XM_011522498.1:c.879T>C | XP_011520800.1:p.Val293= | |
| XM_011522498.2:c.879T>C | XP_011520800.1:p.Val293= | |
| XM_017023237.1:c.879T>C | XP_016878726.1:p.Val293= | |
| XM_017023238.1:c.753T>C | XP_016878727.1:p.Val251= | |
| XM_017023239.1:c.741T>C | XP_016878728.1:p.Val247= | |
| XM_017023240.1:c.879T>C | XP_016878729.1:p.Val293= | |
| XM_017023241.1:c.615T>C | XP_016878730.1:p.Val205= | |
| XM_017023242.1:c.879T>C | XP_016878731.1:p.Val293= | |
| XM_017023243.2:c.879T>C | XP_016878732.1:p.Val293= | |
| NM_004996.4:c.825T>C MANE Select | NP_004987.2:p.Val275= |