Linked Data
ClinVar Variation Id:
315638
ClinVar RCV Id:
RCV000306780
dbSNP Id:
rs761222362
ExAC:
15:34635224 C / G
gnomAD v2:
15-34635224-C-G
gnomAD v3:
15-34343023-C-G
gnomAD v4:
15-34343023-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34343023C>G , CM000677.2:g.34343023C>G | GRCh38 |
| NC_000015.9:g.34635224C>G , CM000677.1:g.34635224C>G | GRCh37 |
| NC_000015.8:g.32422516C>G | NCBI36 |
| NG_007951.1:g.42G>C , LRG_270:g.42G>C | |
| NG_011562.1:g.5139G>C , LRG_345:g.5139G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557912.2:c.51G>C | ENSP00000453475.1:p.Leu17= | |
| ENST00000699926.1:c.51G>C | ENSP00000514692.1:p.Leu17= | |
| ENST00000699934.1:c.51G>C | ENSP00000514697.1:p.Leu17= | |
| ENST00000699935.1:c.-269G>C | ENSP00000514698.1:n.-269G>C | |
| ENST00000699936.1:c.-135G>C | ENSP00000514699.1:n.-135G>C | |
| ENST00000699937.1:c.39+12G>C | ENSP00000514700.1:n.39+12G>C | |
| ENST00000699938.1:c.51G>C | ENSP00000514701.1:p.Leu17= | |
| ENST00000699939.1:n.137G>C | ||
| ENST00000328848.6:c.51G>C MANE Select | ENSP00000332198.5:p.Leu17= | |
| ENST00000328848.5:c.51G>C | ENSP00000332198.4:p.Leu17= | |
| ENST00000557912.1:c.51G>C | ENSP00000453475.1:p.Leu17= | |
| NM_018648.3:c.51G>C , LRG_345t1:c.51G>C | NP_061118.1:p.Leu17= | |
| NM_018648.4:c.51G>C MANE Select | NP_061118.1:p.Leu17= |