Linked Data
ClinVar Variation Id:
2972067
ClinVar RCV Id:
RCV003835193
dbSNP Id:
rs760291598
ExAC:
6:31918430 C / T
gnomAD v2:
6-31918430-C-T
gnomAD v4:
6-31950653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950653C>T , CM000668.2:g.31950653C>T | GRCh38 |
| NC_000006.11:g.31918430C>T , CM000668.1:g.31918430C>T | GRCh37 |
| NC_000006.10:g.32026409C>T | NCBI36 |
| NG_008191.1:g.9710C>T , LRG_136:g.9710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2051C>T | ||
| ENST00000483004.2:c.1443C>T | ENSP00000419887.2:p.Val481= | |
| ENST00000698628.1:c.1624+250C>T | ENSP00000513848.1:n.1624+250C>T | |
| ENST00000698629.1:n.1836C>T | ||
| ENST00000698630.1:n.2375C>T | ||
| ENST00000698631.1:n.2376C>T | ||
| ENST00000698632.1:n.3170C>T | ||
| ENST00000698633.1:n.3060C>T | ||
| ENST00000698636.1:n.1881C>T | ||
| ENST00000425368.7:c.1659C>T MANE Select | ENSP00000416561.2:p.Val553= | |
| ENST00000425368.6:c.1659C>T | ENSP00000416561.2:p.Val553= | |
| ENST00000456570.5:c.3165C>T | ENSP00000410815.1:p.Val1055= | |
| ENST00000467360.1:n.785C>T | ||
| ENST00000477310.1:c.2712C>T | ENSP00000418996.1:p.Val904= | |
| ENST00000483004.1:c.281C>T | ||
| NM_001710.5:c.1659C>T , LRG_136t1:c.1659C>T | NP_001701.2:p.Val553= | |
| NM_001710.6:c.1659C>T MANE Select | NP_001701.2:p.Val553= |