Linked Data
ClinVar Variation Id:
140613
dbSNP Id:
rs606231408
ExAC:
10:103534589 G / C
gnomAD v2:
10-103534589-G-C
gnomAD v3:
10-101774832-G-C
gnomAD v4:
10-101774832-G-C
PubMed:
PMID:23533228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101774832G>C , CM000672.2:g.101774832G>C | GRCh38 |
| NC_000010.10:g.103534589G>C , CM000672.1:g.103534589G>C | GRCh37 |
| NC_000010.9:g.103524579G>C | NCBI36 |
| NG_007151.1:g.6239C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320185.7:c.237C>G MANE Select | ENSP00000321797.2:p.Leu79= | |
| ENST00000618991.5:c.-76C>G | ENSP00000484420.1:n.-76C>G | |
| ENST00000344255.8:c.204C>G | ENSP00000340039.3:p.Leu68= | |
| ENST00000320185.6:c.237C>G | ENSP00000321797.2:p.Leu79= | |
| ENST00000344255.7:c.204C>G | ENSP00000340039.3:p.Leu68= | |
| ENST00000346714.7:c.117C>G | ENSP00000344306.3:p.Leu39= | |
| ENST00000347978.2:c.150C>G | ENSP00000321945.2:p.Leu50= | |
| ENST00000469792.6:c.*201C>G | ENSP00000473299.1:n.*201C>G | |
| ENST00000485728.1:n.113C>G | ||
| ENST00000618991.4:c.-76C>G | ENSP00000484420.1:n.-76C>G | |
| NM_001206389.1:c.-76C>G | NP_001193318.1:n.-76C>G | |
| NM_006119.4:c.150C>G | NP_006110.1:p.Leu50= | |
| NM_033163.3:c.237C>G | NP_149353.1:p.Leu79= | |
| NM_033164.3:c.204C>G | NP_149354.1:p.Leu68= | |
| NM_033165.3:c.117C>G | NP_149355.1:p.Leu39= | |
| XM_011539509.1:c.159C>G | XP_011537811.1:p.Leu53= | |
| NM_006119.5:c.150C>G | NP_006110.1:p.Leu50= | |
| NM_033163.4:c.237C>G | NP_149353.1:p.Leu79= | |
| NM_033164.4:c.204C>G | NP_149354.1:p.Leu68= | |
| NM_033165.4:c.117C>G | NP_149355.1:p.Leu39= | |
| NM_001206389.2:c.-76C>G | NP_001193318.1:n.-76C>G | |
| NM_006119.6:c.150C>G | NP_006110.1:p.Leu50= | |
| NM_033163.5:c.237C>G MANE Select | NP_149353.1:p.Leu79= | |
| NM_033165.5:c.117C>G | NP_149355.1:p.Leu39= |