Linked Data
ClinVar Variation Id:
1547630
ClinVar RCV Id:
RCV002186833
dbSNP Id:
rs1458752535
gnomAD v2:
15-89861915-A-G
gnomAD v4:
15-89318684-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318684A>G , CM000677.2:g.89318684A>G | GRCh38 |
| NC_000015.9:g.89861915A>G , CM000677.1:g.89861915A>G | GRCh37 |
| NC_000015.8:g.87662919A>G | NCBI36 |
| NG_008218.1:g.21112T>C | |
| NG_011736.1:g.79722A>G , LRG_500:g.79722A>G | |
| NG_008218.2:g.21112T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3339T>C | ENSP00000516154.1:p.Leu1113= | |
| ENST00000268124.11:c.3339T>C MANE Select | ENSP00000268124.5:p.Leu1113= | |
| ENST00000530292.3:c.2940T>C | ENSP00000432885.2:p.Leu980= | |
| ENST00000635986.2:c.*409T>C | ENSP00000490653.2:n.*409T>C | |
| ENST00000636774.1:c.*1906T>C | ENSP00000489799.1:n.*1906T>C | |
| ENST00000637238.1:c.2148T>C | ENSP00000490756.1:n.2148T>C | |
| ENST00000637264.1:c.2411T>C | ||
| ENST00000666746.1:c.2916T>C | ||
| ENST00000672071.1:n.3537T>C | ||
| ENST00000672695.1:n.516T>C | ||
| ENST00000672923.2:n.3339T>C | ||
| ENST00000268124.9:c.3339T>C | ENSP00000268124.5:p.Leu1113= | |
| ENST00000442287.6:c.3339T>C | ENSP00000399851.2:p.Leu1113= | |
| ENST00000530292.2:c.423T>C | ENSP00000432885.1:p.Leu141= | |
| ENST00000631044.2:c.*2763T>C | ENSP00000486730.1:n.*2763T>C | |
| NM_001126131.1:c.3339T>C | NP_001119603.1:p.Leu1113= | |
| NM_002693.2:c.3339T>C | NP_002684.1:p.Leu1113= | |
| NM_001126131.2:c.3339T>C | NP_001119603.1:p.Leu1113= | |
| NM_002693.3:c.3339T>C MANE Select | NP_002684.1:p.Leu1113= |