Linked Data
ClinVar Variation Id:
41777
dbSNP Id:
rs200851392
ExAC:
11:111965614 T / G
gnomAD v2:
11-111965614-T-G
gnomAD v3:
11-112094890-T-G
gnomAD v4:
11-112094890-T-G
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094890T>G , CM000673.2:g.112094890T>G | GRCh38 |
| NC_000011.9:g.111965614T>G , CM000673.1:g.111965614T>G | GRCh37 |
| NC_000011.8:g.111470824T>G | NCBI36 |
| NG_012337.2:g.13044T>G | |
| NG_012337.3:g.13044T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.*139T>G | ENSP00000432946.2:n.*139T>G | |
| ENST00000534010.2:c.314+5879T>G | ENSP00000433202.2:n.314+5879T>G | |
| ENST00000375549.8:c.400T>G MANE Select | ENSP00000364699.3:p.Leu134Val | |
| ENST00000528021.6:c.314+5879T>G | ENSP00000432465.1:n.314+5879T>G | |
| ENST00000375549.7:c.400T>G | ENSP00000364699.3:p.Leu134Val | |
| ENST00000525291.5:c.283T>G | ENSP00000436669.1:p.Leu95Val | |
| ENST00000525987.5:n.319+5879T>G | ||
| ENST00000526592.5:c.*98T>G | ENSP00000432005.1:n.*98T>G | |
| ENST00000528021.5:c.314+5879T>G | ENSP00000432465.1:n.314+5879T>G | |
| ENST00000528048.5:c.255T>G | ENSP00000436217.1:p.Leu85= | |
| ENST00000528182.5:c.393T>G | ENSP00000435475.1:p.Leu131= | |
| ENST00000530923.5:c.444T>G | ||
| ENST00000531744.5:c.314+5879T>G | ENSP00000456957.1:n.314+5879T>G | |
| ENST00000532699.1:c.314+5879T>G | ENSP00000456434.1:n.314+5879T>G | |
| ENST00000534010.1:c.145+5879T>G | ||
| NM_001276503.1:c.255T>G | NP_001263432.1:p.Leu85= | |
| NM_001276504.1:c.283T>G | NP_001263433.1:p.Leu95Val | |
| NM_001276506.1:c.*98T>G | NP_001263435.1:n.*98T>G | |
| NM_003002.3:c.400T>G | NP_002993.1:p.Leu134Val | |
| NR_077060.1:n.538T>G | ||
| NM_003002.4:c.400T>G MANE Select | NP_002993.1:p.Leu134Val | |
| NM_001276503.2:c.255T>G | NP_001263432.1:p.Leu85= | |
| NM_001276504.2:c.283T>G | NP_001263433.1:p.Leu95Val | |
| NM_001276506.2:c.*98T>G | NP_001263435.1:n.*98T>G | |
| NR_077060.2:n.489T>G |