Linked Data
ClinVar Variation Id:
282504
dbSNP Id:
rs755254043
ExAC:
14:77746406 C / T
gnomAD v2:
14-77746406-C-T
gnomAD v4:
14-77280063-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77280063C>T , CM000676.2:g.77280063C>T | GRCh38 |
| NC_000014.8:g.77746406C>T , CM000676.1:g.77746406C>T | GRCh37 |
| NC_000014.7:g.76816159C>T | NCBI36 |
| NG_008897.1:g.45820G>A , LRG_844:g.45820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.382G>A | ||
| ENST00000556394.2:c.1284G>A | ENSP00000451967.2:p.Gly428= | |
| ENST00000682247.1:c.1743G>A | ENSP00000507213.1:p.Gly581= | |
| ENST00000682382.1:c.2391G>A | ||
| ENST00000682395.1:n.1921G>A | ||
| ENST00000682459.1:n.1446G>A | ||
| ENST00000682467.1:c.1743G>A | ENSP00000508062.1:p.Gly581= | |
| ENST00000682560.1:c.319G>A | ENSP00000507033.1:n.319G>A | |
| ENST00000682795.1:c.1743G>A | ENSP00000507574.1:p.Gly581= | |
| ENST00000682895.1:n.1459G>A | ||
| ENST00000682925.1:c.233G>A | ||
| ENST00000682955.1:n.1031G>A | ||
| ENST00000682973.1:c.73-135G>A | ENSP00000508268.1:n.73-135G>A | |
| ENST00000683095.1:c.149G>A | ENSP00000508040.1:p.Gly50Glu | |
| ENST00000683188.1:c.1718G>A | ||
| ENST00000683380.1:n.1407G>A | ||
| ENST00000683828.1:c.1452G>A | ||
| ENST00000684172.1:c.119G>A | ENSP00000508391.1:p.Gly40Glu | |
| ENST00000684259.1:n.2557G>A | ||
| ENST00000684538.1:n.169G>A | ||
| ENST00000684549.1:n.1294G>A | ||
| ENST00000261534.9:c.1743G>A MANE Select | ENSP00000261534.4:p.Gly581= | |
| ENST00000261534.8:c.1743G>A | ENSP00000261534.4:p.Gly581= | |
| ENST00000452340.7:n.1766G>A | ||
| ENST00000554767.5:n.2529G>A | ||
| ENST00000555134.1:n.382G>A | ||
| ENST00000555710.1:c.12G>A | ENSP00000451730.1:p.Gly4= | |
| ENST00000556171.1:c.146G>A | ||
| NM_013382.5:c.1743G>A , LRG_844t1:c.1743G>A | NP_037514.2:p.Gly581= | |
| XM_011536675.1:c.1743G>A | XP_011534977.1:p.Gly581= | |
| XM_011536676.1:c.1410G>A | XP_011534978.1:p.Gly470= | |
| XM_011536677.1:c.1284G>A | XP_011534979.1:p.Gly428= | |
| XM_011536678.1:c.1743G>A | XP_011534980.1:p.Gly581= | |
| XM_011536679.1:c.837G>A | XP_011534981.1:p.Gly279= | |
| XR_943416.1:n.1946G>A | ||
| XM_011536675.2:c.1743G>A | XP_011534977.1:p.Gly581= | |
| XM_011536676.2:c.1410G>A | XP_011534978.1:p.Gly470= | |
| XM_011536677.3:c.1284G>A | XP_011534979.1:p.Gly428= | |
| XR_001750279.1:n.1943G>A | ||
| XR_001750282.1:n.2396G>A | ||
| XR_943416.3:n.1944G>A | ||
| NM_013382.6:c.1743G>A | NP_037514.2:p.Gly581= | |
| NM_013382.7:c.1743G>A MANE Select | NP_037514.2:p.Gly581= |