Linked Data
ClinVar Variation Id:
424894
ClinVar RCV Id:
RCV000488164
dbSNP Id:
rs1064797109
gnomAD v4:
1-40306142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40306142C>T , CM000663.2:g.40306142C>T | GRCh38 |
| NC_000001.10:g.40771814C>T , CM000663.1:g.40771814C>T | GRCh37 |
| NC_000001.9:g.40544401C>T | NCBI36 |
| NG_008031.1:g.16126G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372748.8:c.1053+1G>A MANE Select | ENSP00000361834.3:n.1053+1G>A | |
| ENST00000372748.7:c.1053+1G>A | ENSP00000361834.3:n.1053+1G>A | |
| ENST00000482722.5:n.1356+1G>A | ||
| NM_001852.3:c.1053+1G>A | NP_001843.1:n.1053+1G>A | |
| XM_006710365.2:c.1053+1G>A | XP_006710428.1:n.1053+1G>A | |
| XM_011540714.1:c.1065+1G>A | XP_011539016.1:n.1065+1G>A | |
| XM_011540715.1:c.783+1G>A | XP_011539017.1:n.783+1G>A | |
| XM_011540716.1:c.783+1G>A | XP_011539018.1:n.783+1G>A | |
| XM_011540717.1:c.510+1G>A | XP_011539019.1:n.510+1G>A | |
| XM_006710365.3:c.1053+1G>A | XP_006710428.1:n.1053+1G>A | |
| XM_011540715.2:c.783+1G>A | XP_011539017.1:n.783+1G>A | |
| XM_011540716.2:c.783+1G>A | XP_011539018.1:n.783+1G>A | |
| XM_011540717.2:c.510+1G>A | XP_011539019.1:n.510+1G>A | |
| XM_017000332.1:c.1065+1G>A | XP_016855821.1:n.1065+1G>A | |
| XM_017000333.1:c.771+1G>A | XP_016855822.1:n.771+1G>A | |
| NM_001852.4:c.1053+1G>A MANE Select | NP_001843.1:n.1053+1G>A |