Linked Data
ClinVar Variation Id:
16415
dbSNP Id:
rs146387238
ExAC:
4:155508663 C / A
gnomAD v2:
4-155508663-C-A
gnomAD v3:
4-154587511-C-A
gnomAD v4:
4-154587511-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154587511C>A , CM000666.2:g.154587511C>A | GRCh38 |
| NC_000004.11:g.155508663C>A , CM000666.1:g.155508663C>A | GRCh37 |
| NC_000004.10:g.155728113C>A | NCBI36 |
| NG_008832.1:g.8235G>T , LRG_557:g.8235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.510+1G>T | ENSP00000498441.1:n.510+1G>T | |
| ENST00000403106.8:c.510+1G>T MANE Select | ENSP00000385981.3:n.510+1G>T | |
| ENST00000651975.1:c.510+1G>T | ENSP00000498441.1:n.510+1G>T | |
| ENST00000302053.7:c.510+1G>T | ENSP00000306361.3:n.510+1G>T | |
| ENST00000403106.7:c.510+1G>T | ENSP00000385981.3:n.510+1G>T | |
| ENST00000622532.1:c.510+1G>T | ENSP00000478487.1:n.510+1G>T | |
| NM_000508.3:c.510+1G>T , LRG_557t1:c.510+1G>T | NP_000499.1:n.510+1G>T | |
| NM_021871.2:c.510+1G>T , LRG_557t2:c.510+1G>T | NP_068657.1:n.510+1G>T | |
| NM_000508.4:c.510+1G>T | NP_000499.1:n.510+1G>T | |
| NM_021871.3:c.510+1G>T | NP_068657.1:n.510+1G>T | |
| NM_021871.4:c.510+1G>T MANE Select | NP_068657.1:n.510+1G>T | |
| NM_000508.5:c.510+1G>T | NP_000499.1:n.510+1G>T |