Linked Data
ClinVar Variation Id:
2067134
ClinVar RCV Id:
RCV002943815
dbSNP Id:
rs1019459140
gnomAD v2:
15-48733901-C-G
gnomAD v4:
15-48441704-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48441704C>G , CM000677.2:g.48441704C>G | GRCh38 |
| NC_000015.9:g.48733901C>G , CM000677.1:g.48733901C>G | GRCh37 |
| NC_000015.8:g.46521193C>G | NCBI36 |
| NG_008805.2:g.209085G>C , LRG_778:g.209085G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6163+17G>C | ENSP00000453958.2:n.6163+17G>C | |
| ENST00000674301.2:c.6163+17G>C | ENSP00000501333.2:n.6163+17G>C | |
| ENST00000316623.10:c.6163+17G>C MANE Select | ENSP00000325527.5:n.6163+17G>C | |
| ENST00000674301.1:c.1162+17G>C | ENSP00000501333.1:n.1162+17G>C | |
| ENST00000316623.9:c.6163+17G>C | ENSP00000325527.5:n.6163+17G>C | |
| ENST00000537463.6:c.*1926+17G>C | ENSP00000440294.2:n.*1926+17G>C | |
| ENST00000559133.5:c.1470+17G>C | ||
| ENST00000560820.1:n.283+17G>C | ||
| NM_000138.4:c.6163+17G>C , LRG_778t1:c.6163+17G>C | NP_000129.3:n.6163+17G>C | |
| NM_000138.5:c.6163+17G>C MANE Select | NP_000129.3:n.6163+17G>C |