Linked Data
ClinVar Variation Id:
1018124
ClinVar RCV Id:
RCV001317380
dbSNP Id:
rs2055310876
gnomAD v4:
15-89317463-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317463C>T , CM000677.2:g.89317463C>T | GRCh38 |
| NC_000015.9:g.89860694C>T , CM000677.1:g.89860694C>T | GRCh37 |
| NC_000015.8:g.87661698C>T | NCBI36 |
| NG_008218.1:g.22333G>A | |
| NG_011736.1:g.78501C>T , LRG_500:g.78501C>T | |
| NG_008218.2:g.22333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3556G>A | ENSP00000516154.1:p.Asp1186Asn | |
| ENST00000268124.11:c.3556G>A MANE Select | ENSP00000268124.5:p.Asp1186Asn | |
| ENST00000530292.3:c.3256G>A | ENSP00000432885.2:n.3256G>A | |
| ENST00000635986.2:c.*626G>A | ENSP00000490653.2:n.*626G>A | |
| ENST00000636774.1:c.*2160G>A | ENSP00000489799.1:n.*2160G>A | |
| ENST00000637042.1:n.80G>A | ||
| ENST00000637238.1:c.2464G>A | ENSP00000490756.1:n.2464G>A | |
| ENST00000637264.1:c.2568G>A | ||
| ENST00000666746.1:c.3133G>A | ||
| ENST00000672071.1:n.4758G>A | ||
| ENST00000672695.1:n.1335G>A | ||
| ENST00000672923.2:n.3556G>A | ||
| ENST00000268124.9:c.3556G>A | ENSP00000268124.5:p.Asp1186Asn | |
| ENST00000442287.6:c.3556G>A | ENSP00000399851.2:p.Asp1186Asn | |
| ENST00000526671.1:n.366G>A | ||
| ENST00000530292.2:c.739G>A | ENSP00000432885.1:n.739G>A | |
| ENST00000631044.2:c.*2980G>A | ENSP00000486730.1:n.*2980G>A | |
| NM_001126131.1:c.3556G>A | NP_001119603.1:p.Asp1186Asn | |
| NM_002693.2:c.3556G>A | NP_002684.1:p.Asp1186Asn | |
| NM_001126131.2:c.3556G>A | NP_001119603.1:p.Asp1186Asn | |
| NM_002693.3:c.3556G>A MANE Select | NP_002684.1:p.Asp1186Asn |