Linked Data
ClinVar Variation Id:
12231
ClinVar RCV Id:
RCV000013017
RCV000196099
RCV000130551
RCV001356883
RCV001818150
RCV000382368
RCV003328147
dbSNP Id:
rs121964871
gnomAD v2:
16-68857496-C-G
gnomAD v3:
16-68823593-C-G
gnomAD v4:
16-68823593-C-G
COSMIC:
COSM19742
PubMed:
PMID:8075649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823593C>G , CM000678.2:g.68823593C>G | GRCh38 |
| NC_000016.9:g.68857496C>G , CM000678.1:g.68857496C>G | GRCh37 |
| NC_000016.8:g.67414997C>G | NCBI36 |
| NG_008021.1:g.91302C>G , LRG_301:g.91302C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2131C>G MANE Select | ENSP00000261769.4:p.Leu711Val | |
| ENST00000261769.9:c.2131C>G | ENSP00000261769.4:p.Leu711Val | |
| ENST00000422392.6:c.1948C>G | ENSP00000414946.2:p.Leu650Val | |
| ENST00000562118.1:n.349C>G | ||
| ENST00000562836.5:n.2202C>G | ||
| ENST00000566510.5:c.*797C>G | ENSP00000458139.1:n.*797C>G | |
| ENST00000566612.5:c.*371C>G | ENSP00000454782.1:n.*371C>G | |
| ENST00000611625.4:c.2194C>G | ENSP00000481063.1:p.Leu732Val | |
| ENST00000612417.4:c.1830+1474C>G | ENSP00000478360.1:n.1830+1474C>G | |
| ENST00000621016.4:c.1865+1439C>G | ENSP00000480664.1:n.1865+1439C>G | |
| NM_004360.3:c.2131C>G , LRG_301t1:c.2131C>G | NP_004351.1:p.Leu711Val | |
| XM_011523488.1:c.1396C>G | XP_011521790.1:p.Leu466Val | |
| XM_011523489.1:c.1396C>G | XP_011521791.1:p.Leu466Val | |
| NM_001317184.1:c.1948C>G | NP_001304113.1:p.Leu650Val | |
| NM_001317185.1:c.583C>G | NP_001304114.1:p.Leu195Val | |
| NM_001317186.1:c.166C>G | NP_001304115.1:p.Leu56Val | |
| NM_004360.4:c.2131C>G | NP_004351.1:p.Leu711Val | |
| NM_004360.5:c.2131C>G MANE Select | NP_004351.1:p.Leu711Val | |
| NM_001317184.2:c.1948C>G | NP_001304113.1:p.Leu650Val | |
| NM_001317185.2:c.583C>G | NP_001304114.1:p.Leu195Val | |
| NM_001317186.2:c.166C>G | NP_001304115.1:p.Leu56Val |