Linked Data
ClinVar Variation Id:
3003900
ClinVar RCV Id:
RCV003863475
gnomAD v4:
6-31950740-C-G
MyVariant Identifiers:
chr6:g.31918517C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950740C>G , CM000668.2:g.31950740C>G | GRCh38 |
| NC_000006.11:g.31918517C>G , CM000668.1:g.31918517C>G | GRCh37 |
| NC_000006.10:g.32026496C>G | NCBI36 |
| NG_008191.1:g.9797C>G , LRG_136:g.9797C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2138C>G | ||
| ENST00000483004.2:c.1530C>G | ENSP00000419887.2:p.Leu510= | |
| ENST00000698628.1:c.1624+337C>G | ENSP00000513848.1:n.1624+337C>G | |
| ENST00000698629.1:n.1923C>G | ||
| ENST00000698630.1:n.2462C>G | ||
| ENST00000698631.1:n.2463C>G | ||
| ENST00000698632.1:n.3257C>G | ||
| ENST00000698633.1:n.3147C>G | ||
| ENST00000698636.1:n.1968C>G | ||
| ENST00000425368.7:c.1746C>G MANE Select | ENSP00000416561.2:p.Leu582= | |
| ENST00000425368.6:c.1746C>G | ENSP00000416561.2:p.Leu582= | |
| ENST00000456570.5:c.3252C>G | ENSP00000410815.1:p.Leu1084= | |
| ENST00000467360.1:n.872C>G | ||
| ENST00000477310.1:c.2799C>G | ENSP00000418996.1:p.Leu933= | |
| ENST00000483004.1:c.368C>G | ||
| NM_001710.5:c.1746C>G , LRG_136t1:c.1746C>G | NP_001701.2:p.Leu582= | |
| NM_001710.6:c.1746C>G MANE Select | NP_001701.2:p.Leu582= |