Linked Data
dbSNP Id:
rs11708067
gnomAD v2:
3-123065778-A-G
gnomAD v3:
3-123346931-A-G
gnomAD v4:
3-123346931-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123346931A>G , CM000665.2:g.123346931A>G | GRCh38 |
| NC_000003.11:g.123065778A>G , CM000665.1:g.123065778A>G | GRCh37 |
| NC_000003.10:g.124548468A>G | NCBI36 |
| NG_033882.1:g.106615T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466617.6:c.83+851T>C | ENSP00000420082.2:n.83+851T>C | |
| ENST00000470367.2:c.371+851T>C | ENSP00000514541.1:n.371+851T>C | |
| ENST00000483566.2:c.83+851T>C | ENSP00000420252.2:n.83+851T>C | |
| ENST00000699714.1:c.83+851T>C | ENSP00000514539.1:n.83+851T>C | |
| ENST00000699715.1:c.83+851T>C | ENSP00000514540.1:n.83+851T>C | |
| ENST00000699716.1:c.83+851T>C | ENSP00000514542.1:n.83+851T>C | |
| ENST00000699718.1:c.1406+851T>C | ENSP00000514543.1:n.1406+851T>C | |
| ENST00000462833.6:c.1406+851T>C MANE Select | ENSP00000419361.1:n.1406+851T>C | |
| ENST00000309879.9:c.356+851T>C | ENSP00000308685.5:n.356+851T>C | |
| ENST00000462833.5:c.1406+851T>C | ENSP00000419361.1:n.1406+851T>C | |
| ENST00000466617.5:c.83+851T>C | ENSP00000420082.1:n.83+851T>C | |
| ENST00000476455.1:c.*73+851T>C | ENSP00000417789.1:n.*73+851T>C | |
| ENST00000483566.1:c.83+851T>C | ENSP00000420252.1:n.83+851T>C | |
| ENST00000491190.5:c.305+851T>C | ENSP00000418537.1:n.305+851T>C | |
| NM_001199642.1:c.356+851T>C | NP_001186571.1:n.356+851T>C | |
| NM_183357.2:c.1406+851T>C | NP_899200.1:n.1406+851T>C | |
| XM_005247077.2:c.1406+851T>C | XP_005247134.1:n.1406+851T>C | |
| XM_005247078.1:c.356+851T>C | XP_005247135.1:n.356+851T>C | |
| XM_006713483.1:c.305+851T>C | XP_006713546.1:n.305+851T>C | |
| XM_006713484.1:c.83+851T>C | XP_006713547.1:n.83+851T>C | |
| XM_011512358.1:c.1406+851T>C | XP_011510660.1:n.1406+851T>C | |
| XM_011512359.1:c.407+851T>C | XP_011510661.1:n.407+851T>C | |
| XM_011512360.1:c.317+851T>C | XP_011510662.1:n.317+851T>C | |
| XM_011512361.1:c.83+851T>C | XP_011510663.1:n.83+851T>C | |
| XM_005247077.4:c.1406+851T>C | XP_005247134.1:n.1406+851T>C | |
| XM_011512359.2:c.407+851T>C | XP_011510661.1:n.407+851T>C | |
| XM_011512360.3:c.317+851T>C | XP_011510662.1:n.317+851T>C | |
| XM_017005638.1:c.308+851T>C | XP_016861127.1:n.308+851T>C | |
| XM_017005639.1:c.308+851T>C | XP_016861128.1:n.308+851T>C | |
| NM_001378259.1:c.1406+851T>C | NP_001365188.1:n.1406+851T>C | |
| NM_183357.3:c.1406+851T>C MANE Select | NP_899200.1:n.1406+851T>C |