Linked Data
ClinVar Variation Id:
198553
dbSNP Id:
rs769829396
ExAC:
14:77765830 G / T
gnomAD v2:
14-77765830-G-T
gnomAD v3:
14-77299487-G-T
gnomAD v4:
14-77299487-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77299487G>T , CM000676.2:g.77299487G>T | GRCh38 |
| NC_000014.8:g.77765830G>T , CM000676.1:g.77765830G>T | GRCh37 |
| NC_000014.7:g.76835583G>T | NCBI36 |
| NG_008897.1:g.26396C>A , LRG_844:g.26396C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.344C>A | ENSP00000508202.1:n.344C>A | |
| ENST00000556394.2:c.432C>A | ENSP00000451967.2:p.Thr144= | |
| ENST00000557289.2:c.189C>A | ||
| ENST00000682247.1:c.891C>A | ENSP00000507213.1:p.Thr297= | |
| ENST00000682382.1:c.496-716C>A | ||
| ENST00000682395.1:n.620C>A | ||
| ENST00000682459.1:n.555C>A | ||
| ENST00000682467.1:c.891C>A | ENSP00000508062.1:p.Thr297= | |
| ENST00000682795.1:c.891C>A | ENSP00000507574.1:p.Thr297= | |
| ENST00000682895.1:n.607C>A | ||
| ENST00000682955.1:n.212-716C>A | ||
| ENST00000683167.1:c.271C>A | ||
| ENST00000683188.1:c.417C>A | ||
| ENST00000683300.1:c.110-3214C>A | ENSP00000507630.1:n.110-3214C>A | |
| ENST00000683328.1:c.109+5205C>A | ENSP00000508096.1:n.109+5205C>A | |
| ENST00000683380.1:n.555C>A | ||
| ENST00000683398.1:c.265C>A | ||
| ENST00000683551.1:c.110-716C>A | ||
| ENST00000683828.1:c.600C>A | ||
| ENST00000684259.1:n.742C>A | ||
| ENST00000684549.1:n.442C>A | ||
| ENST00000684554.1:c.161-716C>A | ||
| ENST00000261534.9:c.891C>A MANE Select | ENSP00000261534.4:p.Thr297= | |
| ENST00000261534.8:c.891C>A | ENSP00000261534.4:p.Thr297= | |
| ENST00000452340.7:n.914C>A | ||
| ENST00000553863.5:n.555C>A | ||
| ENST00000554767.5:n.1677C>A | ||
| ENST00000557289.1:c.130C>A | ENSP00000451115.1:p.Leu44Ile | |
| NM_013382.5:c.891C>A , LRG_844t1:c.891C>A | NP_037514.2:p.Thr297= | |
| XM_011536675.1:c.891C>A | XP_011534977.1:p.Thr297= | |
| XM_011536676.1:c.558C>A | XP_011534978.1:p.Thr186= | |
| XM_011536677.1:c.548-3214C>A | XP_011534979.1:n.548-3214C>A | |
| XM_011536678.1:c.891C>A | XP_011534980.1:p.Thr297= | |
| XM_011536679.1:c.-16C>A | XP_011534981.1:n.-16C>A | |
| XM_011536680.1:c.891C>A | XP_011534982.1:p.Thr297= | |
| XR_943416.1:n.1094C>A | ||
| XM_011536675.2:c.891C>A | XP_011534977.1:p.Thr297= | |
| XM_011536676.2:c.558C>A | XP_011534978.1:p.Thr186= | |
| XM_011536677.3:c.548-3214C>A | XP_011534979.1:n.548-3214C>A | |
| XR_001750279.1:n.1091C>A | ||
| XR_001750282.1:n.1095C>A | ||
| XR_943416.3:n.1092C>A | ||
| NM_013382.6:c.891C>A | NP_037514.2:p.Thr297= | |
| NM_013382.7:c.891C>A MANE Select | NP_037514.2:p.Thr297= |