gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41988923 (AMR)
Genomes Max Group AF
0.41988923 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10998753G>T , CM000665.2:g.10998753G>T | GRCh38 |
| NC_000003.11:g.11040439G>T , CM000665.1:g.11040439G>T | GRCh37 |
| NC_000003.10:g.11015439G>T | NCBI36 |
| NG_053003.1:g.11025G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287766.10:c.-216+5824G>T MANE Select | ENSP00000287766.4:n.-216+5824G>T | |
| ENST00000425938.6:c.-386+5824G>T | ENSP00000411689.2:n.-386+5824G>T | |
| ENST00000460480.2:c.-216+5824G>T | ENSP00000494289.1:n.-216+5824G>T | |
| ENST00000462473.2:n.133+5824G>T | ||
| ENST00000642201.1:c.-26+5824G>T | ENSP00000494778.1:n.-26+5824G>T | |
| ENST00000642515.1:c.-1223+5824G>T | ENSP00000496348.1:n.-1223+5824G>T | |
| ENST00000642639.1:c.-212+5824G>T | ENSP00000494191.1:n.-212+5824G>T | |
| ENST00000642735.1:c.-335+5824G>T | ENSP00000494050.1:n.-335+5824G>T | |
| ENST00000642767.1:c.-155+5824G>T | ENSP00000494346.1:n.-155+5824G>T | |
| ENST00000642820.1:c.-406+5824G>T | ENSP00000495900.1:n.-406+5824G>T | |
| ENST00000642831.1:n.176+5824G>T | ||
| ENST00000643498.1:c.-268+5824G>T | ENSP00000494997.1:n.-268+5824G>T | |
| ENST00000644314.1:c.-325+5824G>T | ENSP00000493813.1:n.-325+5824G>T | |
| ENST00000645054.1:c.-373+5824G>T | ENSP00000495751.1:n.-373+5824G>T | |
| ENST00000645281.1:c.-305+5824G>T | ENSP00000493746.1:n.-305+5824G>T | |
| ENST00000645575.1:c.-216+5824G>T | ENSP00000493666.1:n.-216+5824G>T | |
| ENST00000645592.1:c.-154+5824G>T | ENSP00000496619.1:n.-154+5824G>T | |
| ENST00000645776.1:c.-367+5824G>T | ENSP00000495375.1:n.-367+5824G>T | |
| ENST00000645974.1:c.-533+5824G>T | ENSP00000496390.1:n.-533+5824G>T | |
| ENST00000646022.1:c.-88+5824G>T | ENSP00000494134.1:n.-88+5824G>T | |
| ENST00000646035.1:n.168+5824G>T | ||
| ENST00000646060.1:c.-454-2396G>T | ENSP00000496302.1:n.-454-2396G>T | |
| ENST00000646072.1:c.-428+5824G>T | ENSP00000494002.1:n.-428+5824G>T | |
| ENST00000646088.1:c.-155+5824G>T | ENSP00000494608.1:n.-155+5824G>T | |
| ENST00000646487.1:c.-216+5824G>T | ENSP00000496768.1:n.-216+5824G>T | |
| ENST00000646570.1:c.-525+5824G>T | ENSP00000496064.1:n.-525+5824G>T | |
| ENST00000646702.1:c.-216+6448G>T | ENSP00000496697.1:n.-216+6448G>T | |
| ENST00000646886.1:n.140+5824G>T | ||
| ENST00000646924.1:c.-369+5824G>T | ENSP00000493591.1:n.-369+5824G>T | |
| ENST00000647194.1:c.-255+5824G>T | ENSP00000496238.1:n.-255+5824G>T | |
| ENST00000287766.8:c.-216+5824G>T | ENSP00000287766.4:n.-216+5824G>T | |
| ENST00000425938.5:c.-155+5824G>T | ENSP00000411689.1:n.-155+5824G>T | |
| ENST00000462473.1:n.196+5824G>T | ||
| NM_003042.3:c.-216+5824G>T | NP_003033.3:n.-216+5824G>T | |
| XM_006713306.2:c.-155+5824G>T | XP_006713369.1:n.-155+5824G>T | |
| NM_001348250.1:c.-155+5824G>T | NP_001335179.1:n.-155+5824G>T | |
| NM_001348251.1:c.-325+5824G>T | NP_001335180.1:n.-325+5824G>T | |
| NM_001348252.1:c.-428+5824G>T | NP_001335181.1:n.-428+5824G>T | |
| NM_001348253.1:c.-367+5824G>T | NP_001335182.1:n.-367+5824G>T | |
| NM_003042.4:c.-216+5824G>T MANE Select | NP_003033.3:n.-216+5824G>T | |
| NM_001348250.2:c.-155+5824G>T | NP_001335179.1:n.-155+5824G>T | |
| NM_001348251.2:c.-325+5824G>T | NP_001335180.1:n.-325+5824G>T | |
| NM_001348252.2:c.-428+5824G>T | NP_001335181.1:n.-428+5824G>T | |
| NM_001348253.2:c.-367+5824G>T | NP_001335182.1:n.-367+5824G>T |