dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43565869 (SAS)
Genomes Max Group AF
0.43592467 (SAS)
Exomes Max Group AF
0.27439882 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16141824C>T , CM000678.2:g.16141824C>T | GRCh38 |
| NC_000016.9:g.16235681C>T , CM000678.1:g.16235681C>T | GRCh37 |
| NC_000016.8:g.16143182C>T | NCBI36 |
| NG_028268.1:g.197248C>T | |
| NG_028268.2:g.197248C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.*543C>T | ENSP00000382340.4:n.*543C>T | |
| ENST00000399410.8:c.*543C>T MANE Select | ENSP00000382342.3:n.*543C>T | |
| ENST00000572882.3:c.*543C>T | ENSP00000461615.2:n.*543C>T | |
| ENST00000676806.1:n.1865C>T | ||
| ENST00000677164.1:c.*543C>T | ENSP00000502873.1:n.*543C>T | |
| ENST00000678422.1:c.*2236C>T | ENSP00000503954.1:n.*2236C>T | |
| ENST00000399408.6:c.*543C>T | ENSP00000382340.3:n.*543C>T | |
| ENST00000399410.7:c.*543C>T | ENSP00000382342.3:n.*543C>T | |
| NM_004996.3:c.*543C>T | NP_004987.2:n.*543C>T | |
| XM_011522497.1:c.*543C>T | XP_011520799.1:n.*543C>T | |
| XM_011522498.1:c.*543C>T | XP_011520800.1:n.*543C>T | |
| XM_011522498.2:c.*543C>T | XP_011520800.1:n.*543C>T | |
| XM_017023237.1:c.*543C>T | XP_016878726.1:n.*543C>T | |
| XM_017023238.1:c.*543C>T | XP_016878727.1:n.*543C>T | |
| XM_017023239.1:c.*543C>T | XP_016878728.1:n.*543C>T | |
| XM_017023240.1:c.*543C>T | XP_016878729.1:n.*543C>T | |
| XM_017023241.1:c.*543C>T | XP_016878730.1:n.*543C>T | |
| XM_017023242.1:c.*543C>T | XP_016878731.1:n.*543C>T | |
| NM_004996.4:c.*543C>T MANE Select | NP_004987.2:n.*543C>T |