Linked Data
ClinVar Variation Id:
355055
dbSNP Id:
rs375836805
ExAC:
6:112375621 C / T
gnomAD v2:
6-112375621-C-T
gnomAD v3:
6-112054418-C-T
gnomAD v4:
6-112054418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112054418C>T , CM000668.2:g.112054418C>T | GRCh38 |
| NC_000006.11:g.112375621C>T , CM000668.1:g.112375621C>T | GRCh37 |
| NC_000006.10:g.112482314C>T | NCBI36 |
| NG_011748.1:g.5344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.48+13C>T MANE Select | ENSP00000357655.4:n.48+13C>T | |
| ENST00000674325.1:c.48+13C>T | ENSP00000501404.1:n.48+13C>T | |
| ENST00000230529.9:c.48+13C>T | ENSP00000230529.5:n.48+13C>T | |
| ENST00000361714.5:c.48+13C>T | ENSP00000354734.2:n.48+13C>T | |
| ENST00000368663.4:c.48+13C>T | ENSP00000357652.4:n.48+13C>T | |
| ENST00000368664.7:c.102+13C>T | ENSP00000357653.3:n.102+13C>T | |
| ENST00000368666.6:c.102+13C>T | ENSP00000357655.3:n.102+13C>T | |
| ENST00000409166.5:c.-508+184C>T | ENSP00000386467.1:n.-508+184C>T | |
| ENST00000454589.5:c.48+13C>T | ENSP00000395928.1:n.48+13C>T | |
| ENST00000483439.1:n.222+13C>T | ||
| ENST00000604763.5:c.48+13C>T | ENSP00000473777.1:n.48+13C>T | |
| NM_003880.3:c.48+13C>T | NP_003871.1:n.48+13C>T | |
| NM_198239.1:c.102+13C>T | NP_937882.1:n.102+13C>T | |
| NR_125353.1:n.238+13C>T | ||
| NR_125354.1:n.158+13C>T | ||
| XM_011536220.1:c.48+13C>T | XP_011534522.1:n.48+13C>T | |
| XM_011536221.1:c.111+13C>T | XP_011534523.1:n.111+13C>T | |
| XM_011536222.1:c.186+13C>T | XP_011534524.1:n.186+13C>T | |
| XM_011536222.2:c.111+13C>T | XP_011534524.2:n.111+13C>T | |
| XR_001743705.1:n.586+13C>T | ||
| NM_003880.4:c.48+13C>T | NP_003871.1:n.48+13C>T | |
| NM_198239.2:c.48+13C>T MANE Select | NP_937882.2:n.48+13C>T | |
| NR_125353.2:n.302+13C>T | ||
| NR_125354.3:n.129+13C>T |