Linked Data
dbSNP Id:
rs775766910
ExAC:
5:118814620 A / C
gnomAD v2:
5-118814620-A-C
gnomAD v4:
5-119478925-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478925A>C , CM000667.2:g.119478925A>C | GRCh38 |
| NC_000005.9:g.118814620A>C , CM000667.1:g.118814620A>C | GRCh37 |
| NC_000005.8:g.118842519A>C | NCBI36 |
| NG_008182.1:g.31473A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.526A>C | ENSP00000426272.2:p.Asn176His | |
| ENST00000518349.6:c.113-17618A>C | ENSP00000507185.1:n.113-17618A>C | |
| ENST00000682445.1:c.*407A>C | ENSP00000508061.1:n.*407A>C | |
| ENST00000682531.1:n.627A>C | ||
| ENST00000682626.1:c.*32A>C | ENSP00000507857.1:n.*32A>C | |
| ENST00000682996.1:c.526A>C | ENSP00000507792.1:p.Asn176His | |
| ENST00000683265.1:n.619A>C | ||
| ENST00000683371.1:c.*656A>C | ENSP00000508376.1:n.*656A>C | |
| ENST00000683390.1:n.2216A>C | ||
| ENST00000683549.1:n.447A>C | ||
| ENST00000683936.1:c.*411A>C | ENSP00000507721.1:n.*411A>C | |
| ENST00000683974.1:n.608A>C | ||
| ENST00000683996.1:c.115A>C | ENSP00000507060.1:p.Asn39His | |
| ENST00000684131.1:n.365A>C | ||
| ENST00000684160.1:c.*216A>C | ENSP00000507821.1:n.*216A>C | |
| ENST00000684214.1:c.526A>C | ENSP00000508071.1:p.Asn176His | |
| ENST00000414835.7:c.601A>C | ENSP00000411960.3:p.Asn201His | |
| ENST00000510025.7:c.526A>C MANE Select | ENSP00000424940.3:p.Asn176His | |
| ENST00000643250.1:c.*398A>C | ENSP00000494737.1:n.*398A>C | |
| ENST00000644146.1:c.*104A>C | ENSP00000494808.1:n.*104A>C | |
| ENST00000645099.1:c.85A>C | ENSP00000496091.1:p.Asn29His | |
| ENST00000645702.1:c.115A>C | ENSP00000496432.1:p.Asn39His | |
| ENST00000645832.1:c.*411A>C | ENSP00000494316.1:n.*411A>C | |
| ENST00000646058.1:c.526A>C | ENSP00000493579.1:p.Asn176His | |
| ENST00000646355.1:c.*532A>C | ENSP00000493801.1:n.*532A>C | |
| ENST00000646554.1:c.*504A>C | ENSP00000494542.1:n.*504A>C | |
| ENST00000647335.1:c.*493A>C | ENSP00000495180.1:n.*493A>C | |
| ENST00000647342.1:c.*457A>C | ENSP00000494992.1:n.*457A>C | |
| ENST00000256216.10:c.526A>C | ENSP00000256216.6:p.Asn176His | |
| ENST00000414835.6:c.106A>C | ENSP00000411960.2:p.Asn36His | |
| ENST00000442060.7:c.526A>C | ENSP00000390208.3:p.Asn176His | |
| ENST00000503168.5:n.515A>C | ||
| ENST00000504811.5:c.601A>C | ENSP00000420914.1:p.Asn201His | |
| ENST00000505181.5:n.229A>C | ||
| ENST00000508788.5:n.428A>C | ||
| ENST00000509514.5:c.-359A>C | ENSP00000426272.1:n.-359A>C | |
| ENST00000510025.5:c.454A>C | ENSP00000424940.1:p.Asn152His | |
| ENST00000512644.1:n.94A>C | ||
| ENST00000512841.5:n.574A>C | ||
| ENST00000513628.5:c.115A>C | ENSP00000425993.1:p.Asn39His | |
| ENST00000515235.6:n.586A>C | ||
| ENST00000515320.5:c.472A>C | ENSP00000424613.1:p.Asn158His | |
| NM_000414.3:c.526A>C | NP_000405.1:p.Asn176His | |
| NM_001199291.2:c.601A>C | NP_001186220.1:p.Asn201His | |
| NM_001199292.1:c.472A>C | NP_001186221.1:p.Asn158His | |
| NM_001292027.1:c.454A>C | NP_001278956.1:p.Asn152His | |
| NM_001292028.1:c.106A>C | NP_001278957.1:p.Asn36His | |
| NM_000414.4:c.526A>C MANE Select | NP_000405.1:p.Asn176His | |
| NM_001199291.3:c.601A>C | NP_001186220.1:p.Asn201His | |
| NM_001199292.2:c.472A>C | NP_001186221.1:p.Asn158His | |
| NM_001292027.2:c.454A>C | NP_001278956.1:p.Asn152His | |
| NM_001292028.2:c.106A>C | NP_001278957.1:p.Asn36His | |
| NM_001374497.1:c.517A>C | NP_001361426.1:p.Asn173His | |
| NM_001374498.1:c.526A>C | NP_001361427.1:p.Asn176His | |
| NM_001374499.1:c.199A>C | NP_001361428.1:p.Asn67His | |
| NM_001374500.1:c.85A>C | NP_001361429.1:p.Asn29His | |
| NM_001374501.1:c.115A>C | NP_001361430.1:p.Asn39His | |
| NM_001374502.1:c.115A>C | NP_001361431.1:p.Asn39His | |
| NM_001374503.1:c.115A>C | NP_001361432.1:p.Asn39His | |
| NR_164653.1:n.605A>C | ||
| NR_164654.1:n.793A>C |