Linked Data
ClinVar Variation Id:
2111380
ClinVar RCV Id:
RCV003023941
dbSNP Id:
rs867671432
gnomAD v4:
1-160139960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139960C>T , CM000663.2:g.160139960C>T | GRCh38 |
| NC_000001.10:g.160109750C>T , CM000663.1:g.160109750C>T | GRCh37 |
| NC_000001.9:g.158376374C>T | NCBI36 |
| NG_008014.1:g.29203C>T , LRG_6:g.29203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.3010C>T MANE Select | ENSP00000354490.3:p.Leu1004Phe | |
| ENST00000361216.7:c.3010C>T | ENSP00000354490.3:p.Leu1004Phe | |
| ENST00000392233.7:c.2977C>T | ENSP00000376066.3:p.Leu993Phe | |
| ENST00000447527.1:c.2091C>T | ||
| ENST00000459972.1:n.2C>T | ||
| ENST00000463989.1:n.346C>T | ||
| NM_000702.3:c.3010C>T | NP_000693.1:p.Leu1004Phe | |
| NM_000702.4:c.3010C>T MANE Select | NP_000693.1:p.Leu1004Phe |