gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19742718 (AMR)
Genomes Max Group AF
0.19742718 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80088158G>T , CM000672.2:g.80088158G>T | GRCh38 |
| NC_000010.10:g.81847914G>T , CM000672.1:g.81847914G>T | GRCh37 |
| NC_000010.9:g.81837894G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372281.8:c.252-2639G>T MANE Select | ENSP00000361355.3:n.252-2639G>T | |
| ENST00000372273.7:c.314-2639G>T | ||
| ENST00000372274.5:c.279+1900G>T | ENSP00000361348.1:n.279+1900G>T | |
| ENST00000372275.5:c.252-2222G>T | ENSP00000361349.1:n.252-2222G>T | |
| ENST00000372277.7:c.279+1900G>T | ENSP00000361351.3:n.279+1900G>T | |
| ENST00000372281.7:c.252-2639G>T | ENSP00000361355.3:n.252-2639G>T | |
| ENST00000450179.1:c.184-2639G>T | ||
| ENST00000463029.5:n.295-2639G>T | ||
| ENST00000467529.5:n.203-2639G>T | ||
| ENST00000472622.5:n.319-2639G>T | ||
| ENST00000476173.5:n.178-2222G>T | ||
| ENST00000483732.5:n.625-2639G>T | ||
| ENST00000613758.4:c.*41-2639G>T | ENSP00000482766.1:n.*41-2639G>T | |
| NM_001270367.1:c.324-2639G>T | NP_001257296.1:n.324-2639G>T | |
| NM_001270368.1:c.*10-2639G>T | NP_001257297.1:n.*10-2639G>T | |
| NM_001270369.1:c.324-2222G>T | NP_001257298.1:n.324-2222G>T | |
| NM_001270370.1:c.279+1900G>T | NP_001257299.1:n.279+1900G>T | |
| NM_001270371.1:c.*41-2639G>T | NP_001257300.1:n.*41-2639G>T | |
| NM_001270372.1:c.*10-2639G>T | NP_001257301.1:n.*10-2639G>T | |
| NM_001270373.1:c.252-2222G>T | NP_001257302.1:n.252-2222G>T | |
| NM_001270374.1:c.*41-2639G>T | NP_001257303.1:n.*41-2639G>T | |
| NM_025125.3:c.252-2639G>T | NP_079401.2:n.252-2639G>T | |
| NR_072984.1:n.323-2639G>T | ||
| NR_072985.1:n.330-2639G>T | ||
| NR_072986.1:n.228-2639G>T | ||
| NR_072987.1:n.228-2222G>T | ||
| XM_006717978.1:c.279-2639G>T | XP_006718041.1:n.279-2639G>T | |
| XM_011540194.1:c.*41-2222G>T | XP_011538496.1:n.*41-2222G>T | |
| XR_945817.1:n.652-2639G>T | ||
| XM_006717978.2:c.279-2639G>T | XP_006718041.1:n.279-2639G>T | |
| XM_017016679.1:c.351+1900G>T | XP_016872168.1:n.351+1900G>T | |
| XR_001747208.1:n.639-2222G>T | ||
| XR_945817.2:n.652-2639G>T | ||
| NM_025125.4:c.252-2639G>T MANE Select | NP_079401.2:n.252-2639G>T | |
| NM_001270370.2:c.279+1900G>T | NP_001257299.1:n.279+1900G>T | |
| NM_001270371.2:c.*41-2639G>T | NP_001257300.1:n.*41-2639G>T | |
| NM_001270372.2:c.*10-2639G>T | NP_001257301.1:n.*10-2639G>T | |
| NM_001270373.2:c.252-2222G>T | NP_001257302.1:n.252-2222G>T | |
| NM_001270374.2:c.*41-2639G>T | NP_001257303.1:n.*41-2639G>T |