Linked Data
ClinVar Variation Id:
2000974
ClinVar RCV Id:
RCV002810785
MyVariant Identifiers:
chr6:g.31918431C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950654C>T , CM000668.2:g.31950654C>T | GRCh38 |
| NC_000006.11:g.31918431C>T , CM000668.1:g.31918431C>T | GRCh37 |
| NC_000006.10:g.32026410C>T | NCBI36 |
| NG_008191.1:g.9711C>T , LRG_136:g.9711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2052C>T | ||
| ENST00000483004.2:c.1444C>T | ENSP00000419887.2:p.Leu482= | |
| ENST00000698628.1:c.1624+251C>T | ENSP00000513848.1:n.1624+251C>T | |
| ENST00000698629.1:n.1837C>T | ||
| ENST00000698630.1:n.2376C>T | ||
| ENST00000698631.1:n.2377C>T | ||
| ENST00000698632.1:n.3171C>T | ||
| ENST00000698633.1:n.3061C>T | ||
| ENST00000698636.1:n.1882C>T | ||
| ENST00000425368.7:c.1660C>T MANE Select | ENSP00000416561.2:p.Leu554= | |
| ENST00000425368.6:c.1660C>T | ENSP00000416561.2:p.Leu554= | |
| ENST00000456570.5:c.3166C>T | ENSP00000410815.1:p.Leu1056= | |
| ENST00000467360.1:n.786C>T | ||
| ENST00000477310.1:c.2713C>T | ENSP00000418996.1:p.Leu905= | |
| ENST00000483004.1:c.282C>T | ||
| NM_001710.5:c.1660C>T , LRG_136t1:c.1660C>T | NP_001701.2:p.Leu554= | |
| NM_001710.6:c.1660C>T MANE Select | NP_001701.2:p.Leu554= |