Linked Data
ClinVar Variation Id:
1349243
ClinVar RCV Id:
RCV002046849
dbSNP Id:
rs745753250
ExAC:
14:92343991 C / G
gnomAD v2:
14-92343991-C-G
gnomAD v4:
14-91877647-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877647C>G , CM000676.2:g.91877647C>G | GRCh38 |
| NC_000014.8:g.92343991C>G , CM000676.1:g.92343991C>G | GRCh37 |
| NC_000014.7:g.91413744C>G | NCBI36 |
| NG_008254.1:g.75056G>C , LRG_364:g.75056G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*991G>C | ENSP00000451002.1:n.*991G>C | |
| ENST00000557570.2:c.857G>C | ENSP00000450787.2:p.Arg286Thr | |
| ENST00000706675.1:n.840G>C | ||
| ENST00000706676.1:c.1199G>C | ENSP00000516492.1:p.Arg400Thr | |
| ENST00000706677.1:c.1025G>C | ENSP00000516493.1:p.Arg342Thr | |
| ENST00000706678.1:n.945G>C | ||
| ENST00000706679.1:c.857G>C | ENSP00000516494.1:p.Arg286Thr | |
| ENST00000706680.1:c.*868G>C | ENSP00000516495.1:n.*868G>C | |
| ENST00000706681.1:c.*764G>C | ENSP00000516496.1:n.*764G>C | |
| ENST00000342058.9:c.1025G>C MANE Select | ENSP00000345008.4:p.Arg342Thr | |
| ENST00000267620.14:c.1148G>C | ENSP00000267620.10:p.Arg383Thr | |
| ENST00000342058.8:c.1025G>C | ENSP00000345008.4:p.Arg342Thr | |
| ENST00000554121.2:n.151G>C | ||
| ENST00000556154.5:c.1040G>C | ENSP00000451982.1:p.Arg347Thr | |
| NM_006329.3:c.1025G>C , LRG_364t1:c.1025G>C | NP_006320.2:p.Arg342Thr | |
| XM_005267267.3:c.1076G>C | XP_005267324.1:p.Arg359Thr | |
| XM_011536356.1:c.1076G>C | XP_011534658.1:p.Arg359Thr | |
| XM_011536357.1:c.1025G>C | XP_011534659.1:p.Arg342Thr | |
| XM_011536358.1:c.857G>C | XP_011534660.1:p.Arg286Thr | |
| XM_011536357.2:c.1025G>C | XP_011534659.1:p.Arg342Thr | |
| XM_011536358.2:c.857G>C | XP_011534660.1:p.Arg286Thr | |
| XM_017020929.2:c.857G>C | XP_016876418.1:p.Arg286Thr | |
| NM_001384158.1:c.1148G>C | NP_001371087.1:p.Arg383Thr | |
| NM_001384159.1:c.1076G>C | NP_001371088.1:p.Arg359Thr | |
| NM_001384160.1:c.1025G>C | NP_001371089.1:p.Arg342Thr | |
| NM_001384161.1:c.857G>C | NP_001371090.1:p.Arg286Thr | |
| NM_001384162.1:c.857G>C | NP_001371091.1:p.Arg286Thr | |
| NM_006329.4:c.1025G>C MANE Select | NP_006320.2:p.Arg342Thr |