Linked Data
ClinVar Variation Id:
540205
dbSNP Id:
rs369070016
ExAC:
5:140054696 G / T
gnomAD v2:
5-140054696-G-T
gnomAD v3:
5-140675111-G-T
gnomAD v4:
5-140675111-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140675111G>T , CM000667.2:g.140675111G>T | GRCh38 |
| NC_000005.9:g.140054696G>T , CM000667.1:g.140054696G>T | GRCh37 |
| NC_000005.8:g.140034880G>T | NCBI36 |
| NG_032158.1:g.21276C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.875C>A | ENSP00000393244.2:p.Thr292Asn | |
| ENST00000504156.7:c.1217C>A MANE Select | ENSP00000425634.1:p.Thr406Asn | |
| ENST00000506579.6:n.3962C>A | ||
| ENST00000507746.7:c.1217C>A | ENSP00000425889.2:p.Thr406Asn | |
| ENST00000509087.2:c.203C>A | ENSP00000502781.1:p.Thr68Asn | |
| ENST00000512396.6:c.*1156C>A | ENSP00000421576.1:n.*1156C>A | |
| ENST00000643686.1:c.*1272C>A | ENSP00000493611.1:n.*1272C>A | |
| ENST00000645491.1:c.*1150C>A | ENSP00000494297.1:n.*1150C>A | |
| ENST00000646229.1:c.1268C>A | ||
| ENST00000674523.1:c.*507C>A | ENSP00000501816.1:n.*507C>A | |
| ENST00000675094.1:n.2314C>A | ||
| ENST00000675204.1:c.1217C>A | ENSP00000501643.1:p.Thr406Asn | |
| ENST00000675355.1:n.1002C>A | ||
| ENST00000675366.1:c.1195-286C>A | ENSP00000501747.1:n.1195-286C>A | |
| ENST00000675698.1:c.1010C>A | ENSP00000501581.1:p.Thr337Asn | |
| ENST00000675763.1:n.3124C>A | ||
| ENST00000675827.1:c.*310C>A | ENSP00000501900.1:n.*310C>A | |
| ENST00000675851.1:c.887C>A | ENSP00000502624.1:p.Thr296Asn | |
| ENST00000675898.1:n.3035C>A | ||
| ENST00000675967.1:n.2831C>A | ||
| ENST00000676327.1:c.1109C>A | ENSP00000502594.1:p.Thr370Asn | |
| ENST00000307633.7:c.1037C>A | ENSP00000304668.3:p.Thr346Asn | |
| ENST00000415192.6:c.995C>A | ENSP00000411085.2:p.Thr332Asn | |
| ENST00000431330.6:c.875C>A | ENSP00000393244.2:p.Thr292Asn | |
| ENST00000438307.6:c.1097C>A | ENSP00000411511.2:p.Thr366Asn | |
| ENST00000457527.6:c.1157C>A | ENSP00000387893.2:p.Thr386Asn | |
| ENST00000504156.5:c.1217C>A | ENSP00000425634.1:p.Thr406Asn | |
| ENST00000504366.5:c.1010C>A | ENSP00000430063.1:p.Thr337Asn | |
| ENST00000509087.1:n.223C>A | ||
| NM_001258040.2:c.1097C>A | NP_001244969.1:p.Thr366Asn | |
| NM_001258041.2:c.1157C>A | NP_001244970.1:p.Thr386Asn | |
| NM_001258042.2:c.1037C>A | NP_001244971.1:p.Thr346Asn | |
| NM_001289092.1:c.995C>A | NP_001276021.1:p.Thr332Asn | |
| NM_001289093.1:c.875C>A | NP_001276022.1:p.Thr292Asn | |
| NM_001289094.1:c.1130C>A | NP_001276023.1:p.Thr377Asn | |
| NM_002109.5:c.1217C>A | NP_002100.2:p.Thr406Asn | |
| NM_002109.6:c.1217C>A MANE Select | NP_002100.2:p.Thr406Asn | |
| NM_001258040.3:c.1097C>A | NP_001244969.1:p.Thr366Asn | |
| NM_001258041.3:c.1157C>A | NP_001244970.1:p.Thr386Asn | |
| NM_001258042.3:c.1037C>A | NP_001244971.1:p.Thr346Asn | |
| NM_001289092.2:c.995C>A | NP_001276021.1:p.Thr332Asn | |
| NM_001289093.2:c.875C>A | NP_001276022.1:p.Thr292Asn | |
| NM_001289094.2:c.1130C>A | NP_001276023.1:p.Thr377Asn |