Linked Data
ClinVar Variation Id:
663918
dbSNP Id:
rs774466835
ExAC:
14:77753145 C / G
gnomAD v2:
14-77753145-C-G
gnomAD v3:
14-77286802-C-G
gnomAD v4:
14-77286802-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286802C>G , CM000676.2:g.77286802C>G | GRCh38 |
| NC_000014.8:g.77753145C>G , CM000676.1:g.77753145C>G | GRCh37 |
| NC_000014.7:g.76822898C>G | NCBI36 |
| NG_008897.1:g.39081G>C , LRG_844:g.39081G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.815G>C | ENSP00000451967.2:p.Ser272Thr | |
| ENST00000682247.1:c.1274G>C | ENSP00000507213.1:p.Ser425Thr | |
| ENST00000682382.1:c.846G>C | ||
| ENST00000682395.1:n.1452G>C | ||
| ENST00000682459.1:n.977G>C | ||
| ENST00000682467.1:c.1274G>C | ENSP00000508062.1:p.Ser425Thr | |
| ENST00000682706.1:n.51G>C | ||
| ENST00000682795.1:c.1274G>C | ENSP00000507574.1:p.Ser425Thr | |
| ENST00000682895.1:n.990G>C | ||
| ENST00000682955.1:n.562G>C | ||
| ENST00000683188.1:c.1249G>C | ||
| ENST00000683328.1:c.267G>C | ENSP00000508096.1:n.267G>C | |
| ENST00000683380.1:n.938G>C | ||
| ENST00000683828.1:c.983G>C | ||
| ENST00000684259.1:n.1125G>C | ||
| ENST00000684444.1:c.21G>C | ||
| ENST00000684549.1:n.825G>C | ||
| ENST00000261534.9:c.1274G>C MANE Select | ENSP00000261534.4:p.Ser425Thr | |
| ENST00000261534.8:c.1274G>C | ENSP00000261534.4:p.Ser425Thr | |
| ENST00000452340.7:n.1297G>C | ||
| ENST00000553880.5:n.145G>C | ||
| ENST00000554767.5:n.2060G>C | ||
| ENST00000554884.5:n.266G>C | ||
| ENST00000556404.1:n.408G>C | ||
| ENST00000556851.1:n.310G>C | ||
| ENST00000557675.5:n.364G>C | ||
| NM_013382.5:c.1274G>C , LRG_844t1:c.1274G>C | NP_037514.2:p.Ser425Thr | |
| XM_011536675.1:c.1274G>C | XP_011534977.1:p.Ser425Thr | |
| XM_011536676.1:c.941G>C | XP_011534978.1:p.Ser314Thr | |
| XM_011536677.1:c.815G>C | XP_011534979.1:p.Ser272Thr | |
| XM_011536678.1:c.1274G>C | XP_011534980.1:p.Ser425Thr | |
| XM_011536679.1:c.368G>C | XP_011534981.1:p.Ser123Thr | |
| XR_943416.1:n.1477G>C | ||
| XM_011536675.2:c.1274G>C | XP_011534977.1:p.Ser425Thr | |
| XM_011536676.2:c.941G>C | XP_011534978.1:p.Ser314Thr | |
| XM_011536677.3:c.815G>C | XP_011534979.1:p.Ser272Thr | |
| XR_001750279.1:n.1474G>C | ||
| XR_001750282.1:n.1927G>C | ||
| XR_943416.3:n.1475G>C | ||
| NM_013382.6:c.1274G>C | NP_037514.2:p.Ser425Thr | |
| NM_013382.7:c.1274G>C MANE Select | NP_037514.2:p.Ser425Thr |