Linked Data
ClinVar Variation Id:
3005242
ClinVar RCV Id:
RCV003868369
dbSNP Id:
rs1555452881
gnomAD v4:
15-89321804-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321804C>G , CM000677.2:g.89321804C>G | GRCh38 |
| NC_000015.9:g.89865035C>G , CM000677.1:g.89865035C>G | GRCh37 |
| NC_000015.8:g.87666039C>G | NCBI36 |
| NG_008218.1:g.17992G>C | |
| NG_008218.2:g.17992G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2530G>C | ENSP00000516154.1:p.Val844Leu | |
| ENST00000268124.11:c.2530G>C MANE Select | ENSP00000268124.5:p.Val844Leu | |
| ENST00000530292.3:c.2131G>C | ENSP00000432885.2:p.Val711Leu | |
| ENST00000635986.2:c.2530G>C | ENSP00000490653.2:p.Val844Leu | |
| ENST00000636774.1:c.*1097G>C | ENSP00000489799.1:n.*1097G>C | |
| ENST00000637238.1:c.1227G>C | ENSP00000490756.1:n.1227G>C | |
| ENST00000637264.1:c.1602G>C | ||
| ENST00000666746.1:c.2107G>C | ||
| ENST00000670281.1:c.800+158G>C | ENSP00000499709.1:n.800+158G>C | |
| ENST00000672071.1:n.2728G>C | ||
| ENST00000672923.2:n.2472G>C | ||
| ENST00000268124.9:c.2530G>C | ENSP00000268124.5:p.Val844Leu | |
| ENST00000442287.6:c.2530G>C | ENSP00000399851.2:p.Val844Leu | |
| ENST00000528881.2:c.196-544G>C | ||
| ENST00000530715.5:c.186-935G>C | ENSP00000431395.1:n.186-935G>C | |
| ENST00000532584.5:n.679G>C | ||
| ENST00000631044.2:c.*1954G>C | ENSP00000486730.1:n.*1954G>C | |
| NM_001126131.1:c.2530G>C | NP_001119603.1:p.Val844Leu | |
| NM_002693.2:c.2530G>C | NP_002684.1:p.Val844Leu | |
| NM_001126131.2:c.2530G>C | NP_001119603.1:p.Val844Leu | |
| NM_002693.3:c.2530G>C MANE Select | NP_002684.1:p.Val844Leu |