Linked Data
ClinVar Variation Id:
2829787
ClinVar RCV Id:
RCV003628184
dbSNP Id:
rs1342103712
gnomAD v4:
15-89319069-A-G
MyVariant Identifiers:
chr15:g.89862300A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89319069A>G , CM000677.2:g.89319069A>G | GRCh38 |
| NC_000015.9:g.89862300A>G , CM000677.1:g.89862300A>G | GRCh37 |
| NC_000015.8:g.87663304A>G | NCBI36 |
| NG_008218.1:g.20727T>C | |
| NG_011736.1:g.80107A>G , LRG_500:g.80107A>G | |
| NG_008218.2:g.20727T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.3135T>C | ENSP00000516154.1:p.Ala1045= | |
| ENST00000268124.11:c.3135T>C MANE Select | ENSP00000268124.5:p.Ala1045= | |
| ENST00000530292.3:c.2736T>C | ENSP00000432885.2:p.Ala912= | |
| ENST00000635986.2:c.*205T>C | ENSP00000490653.2:n.*205T>C | |
| ENST00000636530.1:n.95T>C | ||
| ENST00000636774.1:c.*1702T>C | ENSP00000489799.1:n.*1702T>C | |
| ENST00000637238.1:c.1944T>C | ENSP00000490756.1:n.1944T>C | |
| ENST00000637264.1:c.2207T>C | ||
| ENST00000666746.1:c.2712T>C | ||
| ENST00000672071.1:n.3333T>C | ||
| ENST00000672695.1:n.312T>C | ||
| ENST00000672923.2:n.3135T>C | ||
| ENST00000268124.9:c.3135T>C | ENSP00000268124.5:p.Ala1045= | |
| ENST00000442287.6:c.3135T>C | ENSP00000399851.2:p.Ala1045= | |
| ENST00000530292.2:c.219T>C | ENSP00000432885.1:p.Ala73= | |
| ENST00000631044.2:c.*2559T>C | ENSP00000486730.1:n.*2559T>C | |
| NM_001126131.1:c.3135T>C | NP_001119603.1:p.Ala1045= | |
| NM_002693.2:c.3135T>C | NP_002684.1:p.Ala1045= | |
| NM_001126131.2:c.3135T>C | NP_001119603.1:p.Ala1045= | |
| NM_002693.3:c.3135T>C MANE Select | NP_002684.1:p.Ala1045= |