Linked Data
ClinVar Variation Id:
2037624
ClinVar RCV Id:
RCV002885910
dbSNP Id:
rs766086170
ExAC:
15:48797207 A / G
gnomAD v2:
15-48797207-A-G
gnomAD v3:
15-48505010-A-G
gnomAD v4:
15-48505010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48505010A>G , CM000677.2:g.48505010A>G | GRCh38 |
| NC_000015.9:g.48797207A>G , CM000677.1:g.48797207A>G | GRCh37 |
| NC_000015.8:g.46584499A>G | NCBI36 |
| NG_008805.2:g.145779T>C , LRG_778:g.145779T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.1960+15T>C | ENSP00000453958.2:n.1960+15T>C | |
| ENST00000674301.2:c.1960+15T>C | ENSP00000501333.2:n.1960+15T>C | |
| ENST00000684448.1:n.634+15T>C | ||
| ENST00000316623.10:c.1960+15T>C MANE Select | ENSP00000325527.5:n.1960+15T>C | |
| ENST00000316623.9:c.1960+15T>C | ENSP00000325527.5:n.1960+15T>C | |
| ENST00000537463.6:c.637-30360T>C | ENSP00000440294.2:n.637-30360T>C | |
| NM_000138.4:c.1960+15T>C , LRG_778t1:c.1960+15T>C | NP_000129.3:n.1960+15T>C | |
| NM_000138.5:c.1960+15T>C MANE Select | NP_000129.3:n.1960+15T>C |