Linked Data
ClinVar Variation Id:
36870
dbSNP Id:
rs193922706
ExAC:
3:14183242 C / G
gnomAD v2:
3-14183242-C-G
gnomAD v3:
3-14141742-C-G
gnomAD v4:
3-14141742-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141742C>G , CM000665.2:g.14141742C>G | GRCh38 |
| NC_000003.11:g.14183242C>G , CM000665.1:g.14183242C>G | GRCh37 |
| NC_000003.10:g.14158243C>G | NCBI36 |
| NG_008975.1:g.21803C>G , LRG_435:g.21803C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1180C>G | ENSP00000395617.1:n.*1180C>G | |
| ENST00000306077.5:c.1150C>G MANE Select | ENSP00000303992.5:p.Leu384Val | |
| ENST00000306077.4:c.1150C>G | ENSP00000303992.4:p.Leu384Val | |
| ENST00000601399.3:n.327+2445C>G | ||
| ENST00000608606.1:c.236+2445C>G | ||
| ENST00000626721.1:n.15C>G | ||
| NM_024334.2:c.1150C>G , LRG_435t1:c.1150C>G | NP_077310.1:p.Leu384Val | |
| XM_011534109.1:c.1045C>G | XP_011532411.1:p.Leu349Val | |
| XM_017007176.2:c.1045C>G | XP_016862665.1:p.Leu349Val | |
| NM_024334.3:c.1150C>G MANE Select | NP_077310.1:p.Leu384Val |