Linked Data
ClinVar Variation Id:
288761
dbSNP Id:
rs779272258
gnomAD v2:
14-77765896-C-T
gnomAD v3:
14-77299553-C-T
gnomAD v4:
14-77299553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77299553C>T , CM000676.2:g.77299553C>T | GRCh38 |
| NC_000014.8:g.77765896C>T , CM000676.1:g.77765896C>T | GRCh37 |
| NC_000014.7:g.76835649C>T | NCBI36 |
| NG_008897.1:g.26330G>A , LRG_844:g.26330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.278G>A | ENSP00000508202.1:n.278G>A | |
| ENST00000556394.2:c.366G>A | ENSP00000451967.2:p.Val122= | |
| ENST00000557289.2:c.161-38G>A | ||
| ENST00000682247.1:c.825G>A | ENSP00000507213.1:p.Val275= | |
| ENST00000682382.1:c.496-782G>A | ||
| ENST00000682395.1:n.554G>A | ||
| ENST00000682459.1:n.489G>A | ||
| ENST00000682467.1:c.825G>A | ENSP00000508062.1:p.Val275= | |
| ENST00000682795.1:c.825G>A | ENSP00000507574.1:p.Val275= | |
| ENST00000682895.1:n.541G>A | ||
| ENST00000682955.1:n.212-782G>A | ||
| ENST00000683167.1:c.205G>A | ||
| ENST00000683188.1:c.351G>A | ||
| ENST00000683300.1:c.110-3280G>A | ENSP00000507630.1:n.110-3280G>A | |
| ENST00000683328.1:c.109+5139G>A | ENSP00000508096.1:n.109+5139G>A | |
| ENST00000683380.1:n.489G>A | ||
| ENST00000683398.1:c.199G>A | ||
| ENST00000683551.1:c.110-782G>A | ||
| ENST00000683828.1:c.534G>A | ||
| ENST00000684259.1:n.676G>A | ||
| ENST00000684549.1:n.376G>A | ||
| ENST00000684554.1:c.161-782G>A | ||
| ENST00000261534.9:c.825G>A MANE Select | ENSP00000261534.4:p.Val275= | |
| ENST00000261534.8:c.825G>A | ENSP00000261534.4:p.Val275= | |
| ENST00000452340.7:n.848G>A | ||
| ENST00000553863.5:n.489G>A | ||
| ENST00000554767.5:n.1611G>A | ||
| ENST00000556326.5:c.*491G>A | ENSP00000450630.1:n.*491G>A | |
| ENST00000557289.1:c.64G>A | ENSP00000451115.1:p.Gly22Arg | |
| NM_013382.5:c.825G>A , LRG_844t1:c.825G>A | NP_037514.2:p.Val275= | |
| XM_011536675.1:c.825G>A | XP_011534977.1:p.Val275= | |
| XM_011536676.1:c.492G>A | XP_011534978.1:p.Val164= | |
| XM_011536677.1:c.548-3280G>A | XP_011534979.1:n.548-3280G>A | |
| XM_011536678.1:c.825G>A | XP_011534980.1:p.Val275= | |
| XM_011536679.1:c.-82G>A | XP_011534981.1:n.-82G>A | |
| XM_011536680.1:c.825G>A | XP_011534982.1:p.Val275= | |
| XR_943416.1:n.1028G>A | ||
| XM_011536675.2:c.825G>A | XP_011534977.1:p.Val275= | |
| XM_011536676.2:c.492G>A | XP_011534978.1:p.Val164= | |
| XM_011536677.3:c.548-3280G>A | XP_011534979.1:n.548-3280G>A | |
| XR_001750279.1:n.1025G>A | ||
| XR_001750282.1:n.1029G>A | ||
| XR_943416.3:n.1026G>A | ||
| NM_013382.6:c.825G>A | NP_037514.2:p.Val275= | |
| NM_013382.7:c.825G>A MANE Select | NP_037514.2:p.Val275= |