COSMIC:
COSN8867798 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62586148 (EAS)
Genomes Max Group AF
0.61502794 (EAS)
Exomes Max Group AF
0.62531669 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170400087A>C , CM000664.2:g.170400087A>C | GRCh38 |
| NC_000002.11:g.171256597A>C , CM000664.1:g.171256597A>C | GRCh37 |
| NC_000002.10:g.170964843A>C | NCBI36 |
| NG_034020.1:g.226943A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408978.9:c.1792-101A>C MANE Select | ENSP00000386213.4:n.1792-101A>C | |
| ENST00000317935.10:c.1792-101A>C | ENSP00000314650.6:n.1792-101A>C | |
| ENST00000408978.8:c.1792-101A>C | ENSP00000386213.4:n.1792-101A>C | |
| ENST00000409044.7:c.1792-101A>C | ENSP00000386497.3:n.1792-101A>C | |
| ENST00000409940.6:n.1935-101A>C | ||
| ENST00000438642.6:n.1935-101A>C | ||
| ENST00000484338.6:c.1819-101A>C | ENSP00000446237.1:n.1819-101A>C | |
| ENST00000602629.1:n.1660-101A>C | ||
| NM_001083615.3:c.1792-101A>C | NP_001077084.2:n.1792-101A>C | |
| NM_138995.4:c.1792-101A>C | NP_620482.3:n.1792-101A>C | |
| NR_045682.1:n.1935-101A>C | ||
| NR_045683.1:n.1935-101A>C | ||
| NR_045684.1:n.1935-101A>C | ||
| XM_006712299.2:c.1819-101A>C | XP_006712362.1:n.1819-101A>C | |
| XM_011510654.1:c.1819-101A>C | XP_011508956.1:n.1819-101A>C | |
| XM_011510655.1:c.1819-101A>C | XP_011508957.1:n.1819-101A>C | |
| XM_011510656.1:c.1126-101A>C | XP_011508958.1:n.1126-101A>C | |
| XM_011510657.1:c.811-101A>C | XP_011508959.1:n.811-101A>C | |
| XM_011510658.1:c.811-101A>C | XP_011508960.1:n.811-101A>C | |
| XM_006712299.4:c.1819-101A>C | XP_006712362.1:n.1819-101A>C | |
| XM_011510654.3:c.1819-101A>C | XP_011508956.1:n.1819-101A>C | |
| XM_011510655.3:c.1819-101A>C | XP_011508957.1:n.1819-101A>C | |
| XM_011510656.3:c.1126-101A>C | XP_011508958.1:n.1126-101A>C | |
| XM_011510657.3:c.811-101A>C | XP_011508959.1:n.811-101A>C | |
| XM_011510658.3:c.811-101A>C | XP_011508960.1:n.811-101A>C | |
| XM_024452713.1:c.811-101A>C | XP_024308481.1:n.811-101A>C | |
| NM_001083615.4:c.1792-101A>C | NP_001077084.2:n.1792-101A>C | |
| NM_138995.5:c.1792-101A>C MANE Select | NP_620482.3:n.1792-101A>C | |
| NR_045682.2:n.1933-101A>C | ||
| NR_045683.2:n.1933-101A>C | ||
| NR_045684.2:n.1933-101A>C |