Linked Data
ClinVar Variation Id:
426681
dbSNP Id:
rs1085307741
gnomAD v4:
15-89317446-C-A
ERepo:
CA10602282/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317446C>A , CM000677.2:g.89317446C>A | GRCh38 |
| NC_000015.9:g.89860677C>A , CM000677.1:g.89860677C>A | GRCh37 |
| NC_000015.8:g.87661681C>A | NCBI36 |
| NG_008218.1:g.22350G>T | |
| NG_011736.1:g.78484C>A , LRG_500:g.78484C>A | |
| NG_008218.2:g.22350G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.3573G>T | ENSP00000516154.1:p.Lys1191Asn | |
| ENST00000268124.11:c.3573G>T MANE Select | ENSP00000268124.5:p.Lys1191Asn | |
| ENST00000530292.3:c.3273G>T | ENSP00000432885.2:n.3273G>T | |
| ENST00000635986.2:c.*643G>T | ENSP00000490653.2:n.*643G>T | |
| ENST00000636774.1:c.*2177G>T | ENSP00000489799.1:n.*2177G>T | |
| ENST00000637042.1:n.97G>T | ||
| ENST00000637238.1:c.2481G>T | ENSP00000490756.1:n.2481G>T | |
| ENST00000637264.1:c.2585G>T | ||
| ENST00000666746.1:c.3150G>T | ||
| ENST00000672071.1:n.4775G>T | ||
| ENST00000672695.1:n.1352G>T | ||
| ENST00000672923.2:n.3573G>T | ||
| ENST00000268124.9:c.3573G>T | ENSP00000268124.5:p.Lys1191Asn | |
| ENST00000442287.6:c.3573G>T | ENSP00000399851.2:p.Lys1191Asn | |
| ENST00000526671.1:n.383G>T | ||
| ENST00000530292.2:c.756G>T | ENSP00000432885.1:n.756G>T | |
| ENST00000631044.2:c.*2997G>T | ENSP00000486730.1:n.*2997G>T | |
| NM_001126131.1:c.3573G>T | NP_001119603.1:p.Lys1191Asn | |
| NM_002693.2:c.3573G>T | NP_002684.1:p.Lys1191Asn | |
| NM_001126131.2:c.3573G>T | NP_001119603.1:p.Lys1191Asn | |
| NM_002693.3:c.3573G>T MANE Select | NP_002684.1:p.Lys1191Asn |