Linked Data
ClinVar Variation Id:
3075516
ClinVar RCV Id:
RCV004017034
dbSNP Id:
rs193922706
gnomAD v3:
3-14141742-C-A
gnomAD v4:
3-14141742-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141742C>A , CM000665.2:g.14141742C>A | GRCh38 |
| NC_000003.11:g.14183242C>A , CM000665.1:g.14183242C>A | GRCh37 |
| NC_000003.10:g.14158243C>A | NCBI36 |
| NG_008975.1:g.21803C>A , LRG_435:g.21803C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1180C>A | ENSP00000395617.1:n.*1180C>A | |
| ENST00000306077.5:c.1150C>A MANE Select | ENSP00000303992.5:p.Leu384Ile | |
| ENST00000306077.4:c.1150C>A | ENSP00000303992.4:p.Leu384Ile | |
| ENST00000601399.3:n.327+2445C>A | ||
| ENST00000608606.1:c.236+2445C>A | ||
| ENST00000626721.1:n.15C>A | ||
| NM_024334.2:c.1150C>A , LRG_435t1:c.1150C>A | NP_077310.1:p.Leu384Ile | |
| XM_011534109.1:c.1045C>A | XP_011532411.1:p.Leu349Ile | |
| XM_017007176.2:c.1045C>A | XP_016862665.1:p.Leu349Ile | |
| NM_024334.3:c.1150C>A MANE Select | NP_077310.1:p.Leu384Ile |