Linked Data
ClinVar Variation Id:
1421919
dbSNP Id:
rs754313309
ExAC:
6:145956423 A / C
gnomAD v2:
6-145956423-A-C
gnomAD v4:
6-145635287-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145635287A>C , CM000668.2:g.145635287A>C | GRCh38 |
| NC_000006.11:g.145956423A>C , CM000668.1:g.145956423A>C | GRCh37 |
| NC_000006.10:g.145998116A>C | NCBI36 |
| NG_012832.1:g.105569T>G | |
| NG_012832.2:g.105569T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.676T>G MANE Select | ENSP00000356489.3:p.Leu226Val | |
| ENST00000435470.2:c.676T>G | ENSP00000405913.2:p.Leu226Val | |
| ENST00000450221.6:c.298T>G | ENSP00000414900.2:p.Leu100Val | |
| ENST00000611340.5:c.262T>G | ENSP00000480268.1:p.Leu88Val | |
| ENST00000638262.1:c.477-7594T>G | ENSP00000492876.1:n.477-7594T>G | |
| ENST00000638554.1:c.615T>G | ENSP00000492823.1:n.615T>G | |
| ENST00000638717.1:c.459T>G | ||
| ENST00000638778.1:c.262T>G | ENSP00000491353.1:p.Leu88Val | |
| ENST00000638783.1:c.262T>G | ENSP00000491338.1:p.Leu88Val | |
| ENST00000639049.1:c.903T>G | ||
| ENST00000639423.1:c.262T>G | ENSP00000492701.1:p.Leu88Val | |
| ENST00000639465.1:c.262T>G | ENSP00000491180.1:p.Leu88Val | |
| ENST00000639648.1:n.257T>G | ||
| ENST00000639799.1:n.1217T>G | ||
| ENST00000639849.1:c.*210T>G | ENSP00000491224.1:n.*210T>G | |
| ENST00000639859.1:n.6000T>G | ||
| ENST00000640225.1:c.*210T>G | ENSP00000492179.1:n.*210T>G | |
| ENST00000640351.1:c.412T>G | ||
| ENST00000640980.1:c.63-7594T>G | ENSP00000491191.1:n.63-7594T>G | |
| ENST00000367519.7:c.676T>G | ENSP00000356489.3:p.Leu226Val | |
| ENST00000435470.1:c.435T>G | ||
| ENST00000450221.5:c.375T>G | ||
| ENST00000489412.1:n.295T>G | ||
| ENST00000496228.1:n.570T>G | ||
| ENST00000611340.4:c.262T>G | ENSP00000480268.1:p.Leu88Val | |
| ENST00000618445.4:c.676T>G | ENSP00000480339.1:p.Leu226Val | |
| NM_001018041.1:c.676T>G | NP_001018051.1:p.Leu226Val | |
| NM_005670.3:c.676T>G | NP_005661.1:p.Leu226Val | |
| XM_006715564.2:c.477-7594T>G | XP_006715627.1:n.477-7594T>G | |
| XM_011536113.1:c.676T>G | XP_011534415.1:p.Leu226Val | |
| XM_011536114.1:c.676T>G | XP_011534416.1:p.Leu226Val | |
| XM_011536116.1:c.262T>G | XP_011534418.1:p.Leu88Val | |
| NM_001360057.1:c.477-7594T>G | NP_001346986.1:n.477-7594T>G | |
| NM_001360064.1:c.262T>G | NP_001346993.1:p.Leu88Val | |
| NM_001360071.1:c.262T>G | NP_001347000.1:p.Leu88Val | |
| NR_153397.1:n.859T>G | ||
| NR_153398.1:n.290-7594T>G | ||
| XM_011536113.2:c.676T>G | XP_011534415.1:p.Leu226Val | |
| XM_017011301.1:c.214T>G | XP_016866790.1:p.Leu72Val | |
| XM_017011302.1:c.214T>G | XP_016866791.1:p.Leu72Val | |
| XM_024446550.1:c.676T>G | XP_024302318.1:p.Leu226Val | |
| XM_024446551.1:c.262T>G | XP_024302319.1:p.Leu88Val | |
| NM_005670.4:c.676T>G MANE Select | NP_005661.1:p.Leu226Val | |
| NM_001018041.2:c.676T>G | NP_001018051.1:p.Leu226Val | |
| NM_001360057.2:c.477-7594T>G | NP_001346986.1:n.477-7594T>G | |
| NM_001360064.2:c.262T>G | NP_001346993.1:p.Leu88Val | |
| NM_001360071.2:c.262T>G | NP_001347000.1:p.Leu88Val | |
| NM_001368129.2:c.214T>G | NP_001355058.1:p.Leu72Val | |
| NM_001368130.1:c.676T>G | NP_001355059.1:p.Leu226Val | |
| NM_001368131.1:c.262T>G | NP_001355060.1:p.Leu88Val | |
| NM_001368132.1:c.214T>G | NP_001355061.1:p.Leu72Val | |
| NR_153398.2:n.292-7594T>G |