Linked Data
ClinVar Variation Id:
314871
dbSNP Id:
rs148660796
ExAC:
14:92336724 C / T
gnomAD v2:
14-92336724-C-T
gnomAD v3:
14-91870380-C-T
gnomAD v4:
14-91870380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91870380C>T , CM000676.2:g.91870380C>T | GRCh38 |
| NC_000014.8:g.92336724C>T , CM000676.1:g.92336724C>T | GRCh37 |
| NC_000014.7:g.91406477C>T | NCBI36 |
| NG_008254.1:g.82323G>A , LRG_364:g.82323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*1157G>A | ENSP00000451002.1:n.*1157G>A | |
| ENST00000557570.2:c.1023G>A | ENSP00000450787.2:p.Thr341= | |
| ENST00000706675.1:n.1006G>A | ||
| ENST00000706676.1:c.1365G>A | ENSP00000516492.1:p.Thr455= | |
| ENST00000706677.1:c.1370G>A | ENSP00000516493.1:p.Arg457Gln | |
| ENST00000706678.1:n.1111G>A | ||
| ENST00000706679.1:c.1023G>A | ENSP00000516494.1:p.Thr341= | |
| ENST00000706680.1:c.*1034G>A | ENSP00000516495.1:n.*1034G>A | |
| ENST00000706681.1:c.*930G>A | ENSP00000516496.1:n.*930G>A | |
| ENST00000342058.9:c.1191G>A MANE Select | ENSP00000345008.4:p.Thr397= | |
| ENST00000267620.14:c.1314G>A | ENSP00000267620.10:p.Thr438= | |
| ENST00000342058.8:c.1191G>A | ENSP00000345008.4:p.Thr397= | |
| ENST00000554121.2:n.317G>A | ||
| ENST00000556154.5:c.1206G>A | ENSP00000451982.1:p.Thr402= | |
| ENST00000556961.1:n.1326G>A | ||
| NM_006329.3:c.1191G>A , LRG_364t1:c.1191G>A | NP_006320.2:p.Thr397= | |
| XM_005267267.3:c.1242G>A | XP_005267324.1:p.Thr414= | |
| XM_011536356.1:c.1421G>A | XP_011534658.1:p.Arg474Gln | |
| XM_011536357.1:c.1370G>A | XP_011534659.1:p.Arg457Gln | |
| XM_011536358.1:c.1202G>A | XP_011534660.1:p.Arg401Gln | |
| XM_011536357.2:c.1370G>A | XP_011534659.1:p.Arg457Gln | |
| XM_011536358.2:c.1202G>A | XP_011534660.1:p.Arg401Gln | |
| XM_017020929.2:c.1023G>A | XP_016876418.1:p.Thr341= | |
| NM_001384158.1:c.1314G>A | NP_001371087.1:p.Thr438= | |
| NM_001384159.1:c.1242G>A | NP_001371088.1:p.Thr414= | |
| NM_001384160.1:c.1370G>A | NP_001371089.1:p.Arg457Gln | |
| NM_001384161.1:c.1202G>A | NP_001371090.1:p.Arg401Gln | |
| NM_001384162.1:c.1023G>A | NP_001371091.1:p.Thr341= | |
| NM_006329.4:c.1191G>A MANE Select | NP_006320.2:p.Thr397= |