Linked Data
ClinVar Variation Id:
129994
ClinVar RCV Id:
RCV000118016
RCV000234341
RCV000778452
RCV002243762
RCV001847713
RCV002272131
RCV000515366
RCV003330442
RCV002316314
RCV000678829
dbSNP Id:
rs150233690
ExAC:
15:89862304 A / G
gnomAD v2:
15-89862304-A-G
gnomAD v3:
15-89319073-A-G
gnomAD v4:
15-89319073-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89319073A>G , CM000677.2:g.89319073A>G | GRCh38 |
| NC_000015.9:g.89862304A>G , CM000677.1:g.89862304A>G | GRCh37 |
| NC_000015.8:g.87663308A>G | NCBI36 |
| NG_008218.1:g.20723T>C | |
| NG_011736.1:g.80111A>G , LRG_500:g.80111A>G | |
| NG_008218.2:g.20723T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3131T>C | ENSP00000516154.1:p.Val1044Ala | |
| ENST00000268124.11:c.3131T>C MANE Select | ENSP00000268124.5:p.Val1044Ala | |
| ENST00000530292.3:c.2732T>C | ENSP00000432885.2:p.Val911Ala | |
| ENST00000635986.2:c.*201T>C | ENSP00000490653.2:n.*201T>C | |
| ENST00000636530.1:n.91T>C | ||
| ENST00000636774.1:c.*1698T>C | ENSP00000489799.1:n.*1698T>C | |
| ENST00000637238.1:c.1940T>C | ENSP00000490756.1:n.1940T>C | |
| ENST00000637264.1:c.2203T>C | ||
| ENST00000666746.1:c.2708T>C | ||
| ENST00000672071.1:n.3329T>C | ||
| ENST00000672695.1:n.308T>C | ||
| ENST00000672923.2:n.3131T>C | ||
| ENST00000268124.9:c.3131T>C | ENSP00000268124.5:p.Val1044Ala | |
| ENST00000442287.6:c.3131T>C | ENSP00000399851.2:p.Val1044Ala | |
| ENST00000530292.2:c.215T>C | ENSP00000432885.1:p.Val72Ala | |
| ENST00000631044.2:c.*2555T>C | ENSP00000486730.1:n.*2555T>C | |
| NM_001126131.1:c.3131T>C | NP_001119603.1:p.Val1044Ala | |
| NM_002693.2:c.3131T>C | NP_002684.1:p.Val1044Ala | |
| NM_001126131.2:c.3131T>C | NP_001119603.1:p.Val1044Ala | |
| NM_002693.3:c.3131T>C MANE Select | NP_002684.1:p.Val1044Ala |