Linked Data
ClinVar Variation Id:
361469
ClinVar RCV Id:
RCV000298615
dbSNP Id:
rs139110057
gnomAD v2:
8-11351937-G-T
gnomAD v3:
8-11494428-G-T
gnomAD v4:
8-11494428-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11494428G>T , CM000670.2:g.11494428G>T | GRCh38 |
| NC_000008.10:g.11351937G>T , CM000670.1:g.11351937G>T | GRCh37 |
| NC_000008.9:g.11389346G>T | NCBI36 |
| NG_023543.1:g.5417G>T | |
| NG_023543.2:g.5417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+7261G>T | ||
| ENST00000696154.1:c.-91+7261G>T | ENSP00000512445.1:n.-91+7261G>T | |
| ENST00000259089.9:c.-165G>T MANE Select | ENSP00000259089.4:n.-165G>T | |
| ENST00000645242.1:c.-91+7261G>T | ENSP00000494690.1:n.-91+7261G>T | |
| ENST00000259089.8:c.-165G>T | ENSP00000259089.4:n.-165G>T | |
| ENST00000525389.1:n.260G>T | ||
| ENST00000529894.1:c.-254G>T | ENSP00000433663.1:n.-254G>T | |
| NM_001715.2:c.-165G>T | NP_001706.2:n.-165G>T | |
| XM_011543824.1:c.-165G>T | XP_011542126.1:n.-165G>T | |
| XM_011543827.1:c.-254G>T | XP_011542129.1:n.-254G>T | |
| XM_011543828.1:c.-165G>T | XP_011542130.1:n.-165G>T | |
| XM_011543829.1:c.-165G>T | XP_011542131.1:n.-165G>T | |
| NM_001330465.1:c.-254G>T | NP_001317394.1:n.-254G>T | |
| XM_011543828.3:c.-165G>T | XP_011542130.1:n.-165G>T | |
| XM_011543829.3:c.-165G>T | XP_011542131.1:n.-165G>T | |
| NM_001715.3:c.-165G>T MANE Select | NP_001706.2:n.-165G>T | |
| NM_001330465.2:c.-254G>T | NP_001317394.1:n.-254G>T |