Linked Data
ClinVar Variation Id:
361470
ClinVar RCV Id:
RCV000354038
dbSNP Id:
rs886062593
gnomAD v2:
8-11351978-C-T
gnomAD v3:
8-11494469-C-T
gnomAD v4:
8-11494469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11494469C>T , CM000670.2:g.11494469C>T | GRCh38 |
| NC_000008.10:g.11351978C>T , CM000670.1:g.11351978C>T | GRCh37 |
| NC_000008.9:g.11389387C>T | NCBI36 |
| NG_023543.1:g.5458C>T | |
| NG_023543.2:g.5458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+7302C>T | ||
| ENST00000696154.1:c.-91+7302C>T | ENSP00000512445.1:n.-91+7302C>T | |
| ENST00000259089.9:c.-124C>T MANE Select | ENSP00000259089.4:n.-124C>T | |
| ENST00000645242.1:c.-91+7302C>T | ENSP00000494690.1:n.-91+7302C>T | |
| ENST00000259089.8:c.-124C>T | ENSP00000259089.4:n.-124C>T | |
| ENST00000525389.1:n.301C>T | ||
| ENST00000529894.1:c.-213C>T | ENSP00000433663.1:n.-213C>T | |
| NM_001715.2:c.-124C>T | NP_001706.2:n.-124C>T | |
| XM_011543824.1:c.-124C>T | XP_011542126.1:n.-124C>T | |
| XM_011543827.1:c.-213C>T | XP_011542129.1:n.-213C>T | |
| XM_011543828.1:c.-124C>T | XP_011542130.1:n.-124C>T | |
| XM_011543829.1:c.-124C>T | XP_011542131.1:n.-124C>T | |
| NM_001330465.1:c.-213C>T | NP_001317394.1:n.-213C>T | |
| XM_011543828.3:c.-124C>T | XP_011542130.1:n.-124C>T | |
| XM_011543829.3:c.-124C>T | XP_011542131.1:n.-124C>T | |
| NM_001715.3:c.-124C>T MANE Select | NP_001706.2:n.-124C>T | |
| NM_001330465.2:c.-213C>T | NP_001317394.1:n.-213C>T |