Linked Data
dbSNP Id:
rs371268340
ExAC:
3:11067292 A / G
gnomAD v2:
3-11067292-A-G
gnomAD v3:
3-11025606-A-G
gnomAD v4:
3-11025606-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.11025606A>G , CM000665.2:g.11025606A>G | GRCh38 |
| NC_000003.11:g.11067292A>G , CM000665.1:g.11067292A>G | GRCh37 |
| NC_000003.10:g.11042292A>G | NCBI36 |
| NG_053003.1:g.37878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698198.1:c.921+23A>G | ENSP00000513602.1:n.921+23A>G | |
| ENST00000287766.10:c.849+23A>G MANE Select | ENSP00000287766.4:n.849+23A>G | |
| ENST00000642201.1:c.849+23A>G | ENSP00000494778.1:n.849+23A>G | |
| ENST00000642515.1:c.849+23A>G | ENSP00000496348.1:n.849+23A>G | |
| ENST00000642639.1:c.849+23A>G | ENSP00000494191.1:n.849+23A>G | |
| ENST00000642735.1:c.849+23A>G | ENSP00000494050.1:n.849+23A>G | |
| ENST00000642766.1:n.4464+23A>G | ||
| ENST00000642767.1:c.849+23A>G | ENSP00000494346.1:n.849+23A>G | |
| ENST00000642820.1:c.849+23A>G | ENSP00000495900.1:n.849+23A>G | |
| ENST00000642831.1:n.1240+23A>G | ||
| ENST00000643396.1:c.849+23A>G | ENSP00000494136.1:n.849+23A>G | |
| ENST00000643498.1:c.849+23A>G | ENSP00000494997.1:n.849+23A>G | |
| ENST00000644314.1:c.489+23A>G | ENSP00000493813.1:n.489+23A>G | |
| ENST00000644803.1:c.849+23A>G | ENSP00000494469.1:n.849+23A>G | |
| ENST00000645029.1:c.849+23A>G | ENSP00000496171.1:n.849+23A>G | |
| ENST00000645054.1:c.849+23A>G | ENSP00000495751.1:n.849+23A>G | |
| ENST00000645281.1:c.315+23A>G | ENSP00000493746.1:n.315+23A>G | |
| ENST00000645575.1:c.*232+23A>G | ENSP00000493666.1:n.*232+23A>G | |
| ENST00000645592.1:c.849+23A>G | ENSP00000496619.1:n.849+23A>G | |
| ENST00000645598.1:n.681+23A>G | ||
| ENST00000645776.1:c.315+23A>G | ENSP00000495375.1:n.315+23A>G | |
| ENST00000645974.1:c.849+23A>G | ENSP00000496390.1:n.849+23A>G | |
| ENST00000645985.1:c.658+23A>G | ||
| ENST00000646022.1:c.849+23A>G | ENSP00000494134.1:n.849+23A>G | |
| ENST00000646060.1:c.849+23A>G | ENSP00000496302.1:n.849+23A>G | |
| ENST00000646072.1:c.315+23A>G | ENSP00000494002.1:n.315+23A>G | |
| ENST00000646487.1:c.426+23A>G | ENSP00000496768.1:n.426+23A>G | |
| ENST00000646570.1:c.849+23A>G | ENSP00000496064.1:n.849+23A>G | |
| ENST00000646702.1:c.849+23A>G | ENSP00000496697.1:n.849+23A>G | |
| ENST00000646886.1:n.3217+23A>G | ||
| ENST00000646924.1:c.849+23A>G | ENSP00000493591.1:n.849+23A>G | |
| ENST00000647194.1:c.849+23A>G | ENSP00000496238.1:n.849+23A>G | |
| ENST00000647384.1:c.849+23A>G | ENSP00000493779.1:n.849+23A>G | |
| ENST00000287766.8:c.849+23A>G | ENSP00000287766.4:n.849+23A>G | |
| NM_003042.3:c.849+23A>G | NP_003033.3:n.849+23A>G | |
| XM_005265410.3:c.849+23A>G | XP_005265467.1:n.849+23A>G | |
| XM_005265411.3:c.849+23A>G | XP_005265468.1:n.849+23A>G | |
| XM_006713306.2:c.849+23A>G | XP_006713369.1:n.849+23A>G | |
| XM_011534025.1:c.849+23A>G | XP_011532327.1:n.849+23A>G | |
| XM_011534026.1:c.849+23A>G | XP_011532328.1:n.849+23A>G | |
| XM_011534027.1:c.849+23A>G | XP_011532329.1:n.849+23A>G | |
| XM_011534028.1:c.849+23A>G | XP_011532330.1:n.849+23A>G | |
| NM_001348250.1:c.849+23A>G | NP_001335179.1:n.849+23A>G | |
| NM_001348251.1:c.489+23A>G | NP_001335180.1:n.489+23A>G | |
| NM_001348252.1:c.315+23A>G | NP_001335181.1:n.315+23A>G | |
| NM_001348253.1:c.315+23A>G | NP_001335182.1:n.315+23A>G | |
| XM_005265410.5:c.849+23A>G | XP_005265467.1:n.849+23A>G | |
| XM_005265411.5:c.849+23A>G | XP_005265468.1:n.849+23A>G | |
| XM_011534025.3:c.849+23A>G | XP_011532327.1:n.849+23A>G | |
| XM_011534027.3:c.849+23A>G | XP_011532329.1:n.849+23A>G | |
| XM_017007071.2:c.849+23A>G | XP_016862560.1:n.849+23A>G | |
| XM_017007072.2:c.849+23A>G | XP_016862561.1:n.849+23A>G | |
| NM_003042.4:c.849+23A>G MANE Select | NP_003033.3:n.849+23A>G | |
| NM_001348250.2:c.849+23A>G | NP_001335179.1:n.849+23A>G | |
| NM_001348251.2:c.489+23A>G | NP_001335180.1:n.489+23A>G | |
| NM_001348252.2:c.315+23A>G | NP_001335181.1:n.315+23A>G | |
| NM_001348253.2:c.315+23A>G | NP_001335182.1:n.315+23A>G |