Linked Data
ClinVar Variation Id:
21453
dbSNP Id:
rs80338765
ExAC:
14:92357580 C / T
gnomAD v2:
14-92357580-C-T
gnomAD v3:
14-91891236-C-T
gnomAD v4:
14-91891236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91891236C>T , CM000676.2:g.91891236C>T | GRCh38 |
| NC_000014.8:g.92357580C>T , CM000676.1:g.92357580C>T | GRCh37 |
| NC_000014.7:g.91427333C>T | NCBI36 |
| NG_008254.1:g.61467G>A , LRG_364:g.61467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*570G>A | ENSP00000451002.1:n.*570G>A | |
| ENST00000557570.2:c.436G>A | ENSP00000450787.2:p.Gly146Arg | |
| ENST00000706676.1:c.778G>A | ENSP00000516492.1:p.Gly260Arg | |
| ENST00000706677.1:c.604G>A | ENSP00000516493.1:p.Gly202Arg | |
| ENST00000706678.1:n.524G>A | ||
| ENST00000706679.1:c.436G>A | ENSP00000516494.1:p.Gly146Arg | |
| ENST00000706680.1:c.*447G>A | ENSP00000516495.1:n.*447G>A | |
| ENST00000706681.1:c.*343G>A | ENSP00000516496.1:n.*343G>A | |
| ENST00000342058.9:c.604G>A MANE Select | ENSP00000345008.4:p.Gly202Arg | |
| ENST00000267620.14:c.727G>A | ENSP00000267620.10:p.Gly243Arg | |
| ENST00000342058.8:c.604G>A | ENSP00000345008.4:p.Gly202Arg | |
| ENST00000556154.5:c.619G>A | ENSP00000451982.1:p.Gly207Arg | |
| NM_006329.3:c.604G>A , LRG_364t1:c.604G>A | NP_006320.2:p.Gly202Arg | |
| XM_005267267.3:c.655G>A | XP_005267324.1:p.Gly219Arg | |
| XM_011536356.1:c.655G>A | XP_011534658.1:p.Gly219Arg | |
| XM_011536357.1:c.604G>A | XP_011534659.1:p.Gly202Arg | |
| XM_011536358.1:c.436G>A | XP_011534660.1:p.Gly146Arg | |
| XM_011536357.2:c.604G>A | XP_011534659.1:p.Gly202Arg | |
| XM_011536358.2:c.436G>A | XP_011534660.1:p.Gly146Arg | |
| XM_017020929.2:c.436G>A | XP_016876418.1:p.Gly146Arg | |
| NM_001384158.1:c.727G>A | NP_001371087.1:p.Gly243Arg | |
| NM_001384159.1:c.655G>A | NP_001371088.1:p.Gly219Arg | |
| NM_001384160.1:c.604G>A | NP_001371089.1:p.Gly202Arg | |
| NM_001384161.1:c.436G>A | NP_001371090.1:p.Gly146Arg | |
| NM_001384162.1:c.436G>A | NP_001371091.1:p.Gly146Arg | |
| NM_006329.4:c.604G>A MANE Select | NP_006320.2:p.Gly202Arg |