Linked Data
ClinVar Variation Id:
371199
dbSNP Id:
rs756267448
ExAC:
8:1719764 G / T
gnomAD v2:
8-1719764-G-T
gnomAD v3:
8-1771598-G-T
gnomAD v4:
8-1771598-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1771598G>T , CM000670.2:g.1771598G>T | GRCh38 |
| NC_000008.10:g.1719764G>T , CM000670.1:g.1719764G>T | GRCh37 |
| NC_000008.9:g.1707171G>T | NCBI36 |
| NG_008656.2:g.20821G>T , LRG_691:g.20821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331222.6:c.543+1G>T MANE Select | ENSP00000328182.4:n.543+1G>T | |
| ENST00000519254.2:c.543+1G>T | ENSP00000490016.1:n.543+1G>T | |
| ENST00000520991.3:c.543+1G>T | ENSP00000487905.2:n.543+1G>T | |
| ENST00000635751.1:c.543+1G>T | ENSP00000489694.1:n.543+1G>T | |
| ENST00000635773.1:c.496+1G>T | ||
| ENST00000635855.1:c.543+1G>T | ENSP00000489726.1:n.543+1G>T | |
| ENST00000635970.1:c.543+1G>T | ENSP00000490439.1:n.543+1G>T | |
| ENST00000636175.1:c.343+1G>T | ||
| ENST00000636934.1:c.543+1G>T | ENSP00000490218.1:n.543+1G>T | |
| ENST00000637083.1:c.543+1G>T | ENSP00000490235.1:n.543+1G>T | |
| ENST00000637156.1:c.543+1G>T | ENSP00000490458.1:n.543+1G>T | |
| ENST00000331222.4:c.543+1G>T | ENSP00000328182.4:n.543+1G>T | |
| NM_018941.3:c.543+1G>T , LRG_691t1:c.543+1G>T | NP_061764.2:n.543+1G>T | |
| XM_005266021.3:c.543+1G>T | XP_005266078.1:n.543+1G>T | |
| XM_005266022.1:c.543+1G>T | XP_005266079.1:n.543+1G>T | |
| XM_005266023.1:c.543+1G>T | XP_005266080.1:n.543+1G>T | |
| XM_011534745.1:c.543+1G>T | XP_011533047.1:n.543+1G>T | |
| XM_011534746.1:c.543+1G>T | XP_011533048.1:n.543+1G>T | |
| XM_011534747.1:c.543+1G>T | XP_011533049.1:n.543+1G>T | |
| XM_005266021.4:c.543+1G>T | XP_005266078.1:n.543+1G>T | |
| XM_011534746.2:c.543+1G>T | XP_011533048.1:n.543+1G>T | |
| XM_011534747.2:c.543+1G>T | XP_011533049.1:n.543+1G>T | |
| NM_018941.4:c.543+1G>T MANE Select | NP_061764.2:n.543+1G>T |