Linked Data
ClinVar Variation Id:
283659
dbSNP Id:
rs886042679
gnomAD v2:
14-77751901-C-A
gnomAD v3:
14-77285558-C-A
gnomAD v4:
14-77285558-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77285558C>A , CM000676.2:g.77285558C>A | GRCh38 |
| NC_000014.8:g.77751901C>A , CM000676.1:g.77751901C>A | GRCh37 |
| NC_000014.7:g.76821654C>A | NCBI36 |
| NG_008897.1:g.40325G>T , LRG_844:g.40325G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.46G>T | ||
| ENST00000556394.2:c.948G>T | ENSP00000451967.2:p.Val316= | |
| ENST00000682247.1:c.1407G>T | ENSP00000507213.1:p.Val469= | |
| ENST00000682382.1:c.979G>T | ||
| ENST00000682395.1:n.1585G>T | ||
| ENST00000682459.1:n.1110G>T | ||
| ENST00000682467.1:c.1407G>T | ENSP00000508062.1:p.Val469= | |
| ENST00000682560.1:c.75G>T | ENSP00000507033.1:p.Val25= | |
| ENST00000682795.1:c.1407G>T | ENSP00000507574.1:p.Val469= | |
| ENST00000682895.1:n.1123G>T | ||
| ENST00000682955.1:n.695G>T | ||
| ENST00000683188.1:c.1382G>T | ||
| ENST00000683380.1:n.1071G>T | ||
| ENST00000683828.1:c.1116G>T | ||
| ENST00000684259.1:n.1258G>T | ||
| ENST00000684444.1:c.158G>T | ||
| ENST00000684549.1:n.958G>T | ||
| ENST00000261534.9:c.1407G>T MANE Select | ENSP00000261534.4:p.Val469= | |
| ENST00000261534.8:c.1407G>T | ENSP00000261534.4:p.Val469= | |
| ENST00000452340.7:n.1430G>T | ||
| ENST00000553880.5:n.278G>T | ||
| ENST00000554767.5:n.2193G>T | ||
| ENST00000554884.5:n.399G>T | ||
| ENST00000555134.1:n.46G>T | ||
| ENST00000557675.5:n.497G>T | ||
| NM_013382.5:c.1407G>T , LRG_844t1:c.1407G>T | NP_037514.2:p.Val469= | |
| XM_011536675.1:c.1407G>T | XP_011534977.1:p.Val469= | |
| XM_011536676.1:c.1074G>T | XP_011534978.1:p.Val358= | |
| XM_011536677.1:c.948G>T | XP_011534979.1:p.Val316= | |
| XM_011536678.1:c.1407G>T | XP_011534980.1:p.Val469= | |
| XM_011536679.1:c.501G>T | XP_011534981.1:p.Val167= | |
| XR_943416.1:n.1610G>T | ||
| XM_011536675.2:c.1407G>T | XP_011534977.1:p.Val469= | |
| XM_011536676.2:c.1074G>T | XP_011534978.1:p.Val358= | |
| XM_011536677.3:c.948G>T | XP_011534979.1:p.Val316= | |
| XR_001750279.1:n.1607G>T | ||
| XR_001750282.1:n.2060G>T | ||
| XR_943416.3:n.1608G>T | ||
| NM_013382.6:c.1407G>T | NP_037514.2:p.Val469= | |
| NM_013382.7:c.1407G>T MANE Select | NP_037514.2:p.Val469= |