Linked Data
dbSNP Id:
rs149172004
ExAC:
1:227081791 A / C
gnomAD v2:
1-227081791-A-C
gnomAD v3:
1-226894090-A-C
gnomAD v4:
1-226894090-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226894090A>C , CM000663.2:g.226894090A>C | GRCh38 |
| NC_000001.10:g.227081791A>C , CM000663.1:g.227081791A>C | GRCh37 |
| NC_000001.9:g.225148414A>C | NCBI36 |
| NG_007381.1:g.28519A>C | |
| NG_012825.2:g.1555A>C | |
| NG_007381.2:g.28907A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.1156A>C | ENSP00000355741.2:p.Asn386His | |
| ENST00000366782.6:c.1156A>C | ENSP00000355746.2:p.Asn386His | |
| ENST00000366783.8:c.1156A>C MANE Select | ENSP00000355747.3:p.Asn386His | |
| ENST00000471728.2:n.1794A>C | ||
| ENST00000524196.6:c.1156A>C | ENSP00000429036.2:p.Asn386His | |
| ENST00000626989.3:c.1156A>C | ENSP00000486498.2:p.Asn386His | |
| ENST00000676467.1:c.*983A>C | ENSP00000504294.1:n.*983A>C | |
| ENST00000676747.1:c.1153A>C | ENSP00000503244.1:p.Asn385His | |
| ENST00000676884.1:c.1156A>C | ENSP00000503200.1:p.Asn386His | |
| ENST00000676888.1:c.*497A>C | ENSP00000504483.1:n.*497A>C | |
| ENST00000676907.1:c.*735A>C | ENSP00000504410.1:n.*735A>C | |
| ENST00000676945.1:c.1156A>C | ENSP00000504433.1:p.Asn386His | |
| ENST00000677065.1:n.1717A>C | ||
| ENST00000677414.1:c.1156A>C | ENSP00000503116.1:p.Asn386His | |
| ENST00000677529.1:n.2886A>C | ||
| ENST00000677596.1:c.*1378A>C | ENSP00000503618.1:n.*1378A>C | |
| ENST00000677599.1:c.1156A>C | ENSP00000503673.1:p.Asn386His | |
| ENST00000677748.1:n.3411A>C | ||
| ENST00000677880.1:c.721A>C | ENSP00000503121.1:p.Asn241His | |
| ENST00000678021.1:c.*779A>C | ENSP00000504674.1:n.*779A>C | |
| ENST00000678233.1:c.1156A>C | ENSP00000504728.1:p.Asn386His | |
| ENST00000678320.1:c.1057A>C | ENSP00000503680.1:p.Asn353His | |
| ENST00000678655.1:c.1057A>C | ENSP00000504230.1:p.Asn353His | |
| ENST00000678706.1:c.*533A>C | ENSP00000503659.1:n.*533A>C | |
| ENST00000678776.1:c.*1293A>C | ENSP00000504624.1:n.*1293A>C | |
| ENST00000678784.1:c.1072+2246A>C | ENSP00000504652.1:n.1072+2246A>C | |
| ENST00000678820.1:c.1054A>C | ENSP00000504138.1:p.Asn352His | |
| ENST00000678835.1:c.*756+2246A>C | ENSP00000504343.1:n.*756+2246A>C | |
| ENST00000679088.1:c.1156A>C | ENSP00000504727.1:p.Asn386His | |
| ENST00000679098.1:c.1156A>C | ENSP00000504303.1:p.Asn386His | |
| ENST00000366782.5:c.1255A>C | ENSP00000355746.1:p.Asn419His | |
| ENST00000366783.7:c.1156A>C | ENSP00000355747.3:p.Asn386His | |
| ENST00000422240.6:c.1153A>C | ENSP00000403737.2:p.Asn385His | |
| ENST00000471728.1:n.414A>C | ||
| ENST00000472139.2:c.724A>C | ENSP00000427806.1:p.Asn242His | |
| ENST00000626989.2:c.1255A>C | ENSP00000486498.1:p.Asn419His | |
| NM_000447.2:c.1156A>C | NP_000438.2:p.Asn386His | |
| NM_012486.2:c.1153A>C | NP_036618.2:p.Asn385His | |
| XM_005273199.2:c.1156A>C | XP_005273256.1:p.Asn386His | |
| XM_011544236.1:c.724A>C | XP_011542538.1:p.Asn242His | |
| XR_949149.1:n.1890A>C | ||
| XM_005273199.4:c.1156A>C | XP_005273256.1:p.Asn386His | |
| XM_017001835.1:c.1156A>C | XP_016857324.1:p.Asn386His | |
| XM_017001836.1:c.1153A>C | XP_016857325.1:p.Asn385His | |
| XR_001737316.2:n.1477+2246A>C | ||
| XR_001737317.2:n.1477+2246A>C | ||
| XR_001737318.2:n.1871A>C | ||
| XR_001737319.1:n.2214A>C | ||
| XR_001737320.1:n.2211A>C | ||
| XR_001737321.1:n.1706A>C | ||
| XR_949149.2:n.1868A>C | ||
| XR_949150.3:n.2087A>C | ||
| NM_000447.3:c.1156A>C MANE Select | NP_000438.2:p.Asn386His | |
| NM_012486.3:c.1153A>C | NP_036618.2:p.Asn385His |