Linked Data
ClinVar Variation Id:
68844
dbSNP Id:
rs111327589
ExAC:
1:196967422 G / C
gnomAD v2:
1-196967422-G-C
gnomAD v3:
1-196998292-G-C
gnomAD v4:
1-196998292-G-C
COSMIC:
COSM328081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196998292G>C , CM000663.2:g.196998292G>C | GRCh38 |
| NC_000001.10:g.196967422G>C , CM000663.1:g.196967422G>C | GRCh37 |
| NC_000001.9:g.195234045G>C | NCBI36 |
| NG_016365.1:g.25756G>C , LRG_227:g.25756G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.880G>C | ENSP00000514393.1:p.Val294Leu | |
| ENST00000699467.1:n.1204G>C | ||
| ENST00000699468.1:c.229G>C | ENSP00000514394.1:p.Val77Leu | |
| ENST00000699469.1:n.823G>C | ||
| ENST00000256785.5:c.1135G>C MANE Select | ENSP00000256785.4:p.Val379Leu | |
| ENST00000256785.4:c.1135G>C | ENSP00000256785.4:p.Val379Leu | |
| NM_030787.3:c.1135G>C , LRG_227t1:c.1135G>C | NP_110414.1:p.Val379Leu | |
| XM_011510020.1:c.1144G>C | XP_011508322.1:p.Val382Leu | |
| XM_011510020.2:c.1144G>C | XP_011508322.1:p.Val382Leu | |
| NM_030787.4:c.1135G>C MANE Select | NP_110414.1:p.Val379Leu |