Linked Data
ClinVar Variation Id:
282839
dbSNP Id:
rs144748043
ExAC:
14:77769185 C / T
gnomAD v2:
14-77769185-C-T
gnomAD v3:
14-77302842-C-T
gnomAD v4:
14-77302842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77302842C>T , CM000676.2:g.77302842C>T | GRCh38 |
| NC_000014.8:g.77769185C>T , CM000676.1:g.77769185C>T | GRCh37 |
| NC_000014.7:g.76838938C>T | NCBI36 |
| NG_008897.1:g.23041G>A , LRG_844:g.23041G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.110-1593G>A | ENSP00000508202.1:n.110-1593G>A | |
| ENST00000556394.2:c.357+1850G>A | ENSP00000451967.2:n.357+1850G>A | |
| ENST00000556880.6:n.673G>A | ||
| ENST00000682247.1:c.649G>A | ENSP00000507213.1:p.Ala217Thr | |
| ENST00000682377.1:c.229G>A | ENSP00000507494.1:p.Ala77Thr | |
| ENST00000682382.1:c.495+1850G>A | ||
| ENST00000682395.1:n.378G>A | ||
| ENST00000682459.1:n.313G>A | ||
| ENST00000682467.1:c.649G>A | ENSP00000508062.1:p.Ala217Thr | |
| ENST00000682795.1:c.649G>A | ENSP00000507574.1:p.Ala217Thr | |
| ENST00000682895.1:n.365G>A | ||
| ENST00000682955.1:n.211+1850G>A | ||
| ENST00000683188.1:c.342+1850G>A | ||
| ENST00000683300.1:c.109+1850G>A | ENSP00000507630.1:n.109+1850G>A | |
| ENST00000683328.1:c.109+1850G>A | ENSP00000508096.1:n.109+1850G>A | |
| ENST00000683380.1:n.313G>A | ||
| ENST00000683551.1:c.102G>A | ||
| ENST00000683828.1:c.518G>A | ||
| ENST00000684259.1:n.500G>A | ||
| ENST00000684549.1:n.367+1850G>A | ||
| ENST00000261534.9:c.649G>A MANE Select | ENSP00000261534.4:p.Ala217Thr | |
| ENST00000261534.8:c.649G>A | ENSP00000261534.4:p.Ala217Thr | |
| ENST00000452340.7:n.672G>A | ||
| ENST00000553863.5:n.313G>A | ||
| ENST00000554948.1:c.376G>A | ENSP00000452060.1:p.Ala126Thr | |
| ENST00000555675.5:n.365G>A | ||
| ENST00000556326.5:c.*315G>A | ENSP00000450630.1:n.*315G>A | |
| ENST00000556880.5:n.673G>A | ||
| ENST00000557289.1:c.55+1850G>A | ENSP00000451115.1:n.55+1850G>A | |
| NM_013382.5:c.649G>A , LRG_844t1:c.649G>A | NP_037514.2:p.Ala217Thr | |
| XM_011536675.1:c.649G>A | XP_011534977.1:p.Ala217Thr | |
| XM_011536676.1:c.316G>A | XP_011534978.1:p.Ala106Thr | |
| XM_011536677.1:c.547+1850G>A | XP_011534979.1:n.547+1850G>A | |
| XM_011536678.1:c.649G>A | XP_011534980.1:p.Ala217Thr | |
| XM_011536679.1:c.-91+1850G>A | XP_011534981.1:n.-91+1850G>A | |
| XM_011536680.1:c.649G>A | XP_011534982.1:p.Ala217Thr | |
| XR_943416.1:n.852G>A | ||
| XM_011536675.2:c.649G>A | XP_011534977.1:p.Ala217Thr | |
| XM_011536676.2:c.316G>A | XP_011534978.1:p.Ala106Thr | |
| XM_011536677.3:c.547+1850G>A | XP_011534979.1:n.547+1850G>A | |
| XR_001750279.1:n.849G>A | ||
| XR_001750282.1:n.853G>A | ||
| XR_943416.3:n.850G>A | ||
| NM_013382.6:c.649G>A | NP_037514.2:p.Ala217Thr | |
| NM_013382.7:c.649G>A MANE Select | NP_037514.2:p.Ala217Thr |