Linked Data
ClinVar Variation Id:
361456
ClinVar RCV Id:
RCV000389022
dbSNP Id:
rs538706235
gnomAD v2:
8-11351571-C-T
gnomAD v3:
8-11494062-C-T
gnomAD v4:
8-11494062-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11494062C>T , CM000670.2:g.11494062C>T | GRCh38 |
| NC_000008.10:g.11351571C>T , CM000670.1:g.11351571C>T | GRCh37 |
| NC_000008.9:g.11388980C>T | NCBI36 |
| NG_023543.1:g.5051C>T | |
| NG_023543.2:g.5051C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+6895C>T | ||
| ENST00000696154.1:c.-91+6895C>T | ENSP00000512445.1:n.-91+6895C>T | |
| ENST00000645242.1:c.-91+6895C>T | ENSP00000494690.1:n.-91+6895C>T | |
| ENST00000259089.8:c.-531C>T | ENSP00000259089.4:n.-531C>T | |
| NM_001715.2:c.-531C>T | NP_001706.2:n.-531C>T | |
| XM_011543824.1:c.-531C>T | XP_011542126.1:n.-531C>T | |
| XM_011543827.1:c.-620C>T | XP_011542129.1:n.-620C>T | |
| XM_011543828.1:c.-531C>T | XP_011542130.1:n.-531C>T | |
| XM_011543829.1:c.-531C>T | XP_011542131.1:n.-531C>T | |
| NM_001330465.1:c.-620C>T | NP_001317394.1:n.-620C>T | |
| XM_011543828.3:c.-531C>T | XP_011542130.1:n.-531C>T | |
| XM_011543829.3:c.-531C>T | XP_011542131.1:n.-531C>T |