Linked Data
ClinVar Variation Id:
411751
ClinVar RCV Id:
RCV002365663
dbSNP Id:
rs1060503463
gnomAD v4:
8-89980831-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89980831A>C , CM000670.2:g.89980831A>C | GRCh38 |
| NC_000008.10:g.90993059A>C , CM000670.1:g.90993059A>C | GRCh37 |
| NC_000008.9:g.91062235A>C | NCBI36 |
| NG_008860.1:g.8841T>G , LRG_158:g.8841T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.1685T>G | ||
| ENST00000517337.2:c.137T>G | ENSP00000429971.2:p.Leu46Ter | |
| ENST00000523444.2:c.137T>G | ENSP00000428252.2:p.Leu46Ter | |
| ENST00000697292.1:c.383T>G | ENSP00000513229.1:p.Leu128Ter | |
| ENST00000697293.1:c.383T>G | ENSP00000513230.1:p.Leu128Ter | |
| ENST00000697294.1:c.342T>G | ENSP00000513231.1:p.Phe114Leu | |
| ENST00000697295.1:c.37+3694T>G | ENSP00000513232.1:n.37+3694T>G | |
| ENST00000697296.1:c.*51T>G | ENSP00000513233.1:n.*51T>G | |
| ENST00000697297.1:n.2168T>G | ||
| ENST00000697298.1:c.137T>G | ENSP00000513234.1:p.Leu46Ter | |
| ENST00000697299.1:c.137T>G | ENSP00000513235.1:p.Leu46Ter | |
| ENST00000697300.1:c.137T>G | ENSP00000513236.1:p.Leu46Ter | |
| ENST00000697301.1:c.96T>G | ENSP00000513237.1:p.Phe32Leu | |
| ENST00000697302.1:c.342T>G | ENSP00000513238.1:p.Phe114Leu | |
| ENST00000697303.1:c.383T>G | ENSP00000513239.1:p.Leu128Ter | |
| ENST00000697304.1:c.383T>G | ENSP00000513240.1:p.Leu128Ter | |
| ENST00000697306.1:c.383T>G | ENSP00000513241.1:p.Leu128Ter | |
| ENST00000697307.1:c.383T>G | ENSP00000513242.1:p.Leu128Ter | |
| ENST00000697308.1:c.383T>G | ENSP00000513243.1:p.Leu128Ter | |
| ENST00000697309.1:c.383T>G | ENSP00000513244.1:p.Leu128Ter | |
| ENST00000697310.1:c.383T>G | ENSP00000513245.1:p.Leu128Ter | |
| ENST00000697311.1:c.383T>G | ENSP00000513246.1:p.Leu128Ter | |
| ENST00000697312.1:c.383T>G | ENSP00000513247.1:p.Leu128Ter | |
| ENST00000697313.1:n.2174T>G | ||
| ENST00000697314.1:n.2174T>G | ||
| ENST00000697315.1:c.383T>G | ENSP00000513248.1:p.Leu128Ter | |
| ENST00000697316.1:n.504T>G | ||
| ENST00000697317.1:n.493T>G | ||
| ENST00000697318.1:n.495T>G | ||
| ENST00000265433.8:c.383T>G MANE Select | ENSP00000265433.4:p.Leu128Ter | |
| ENST00000265433.7:c.383T>G | ENSP00000265433.3:p.Leu128Ter | |
| ENST00000396252.6:c.*256T>G | ENSP00000379551.2:n.*256T>G | |
| ENST00000409330.5:c.137T>G | ENSP00000386924.1:p.Leu46Ter | |
| ENST00000517337.1:c.137T>G | ENSP00000429971.1:p.Leu46Ter | |
| ENST00000517772.5:c.137T>G | ENSP00000428717.1:p.Leu46Ter | |
| ENST00000519426.5:c.320+544T>G | ENSP00000430983.1:n.320+544T>G | |
| ENST00000523444.1:c.*215T>G | ENSP00000428252.1:n.*215T>G | |
| NM_001024688.2:c.137T>G | NP_001019859.1:p.Leu46Ter | |
| NM_002485.4:c.383T>G , LRG_158t1:c.383T>G | NP_002476.2:p.Leu128Ter | |
| XM_011517044.1:c.359T>G | XP_011515346.1:p.Leu120Ter | |
| XM_011517045.1:c.137T>G | XP_011515347.1:p.Leu46Ter | |
| XM_011517046.1:c.383T>G | XP_011515348.1:p.Leu128Ter | |
| XR_928335.1:n.520T>G | ||
| XM_017013460.1:c.-587T>G | XP_016868949.1:n.-587T>G | |
| XM_017013462.2:c.-393T>G | XP_016868951.1:n.-393T>G | |
| XM_024447163.1:c.137T>G | XP_024302931.1:p.Leu46Ter | |
| XM_024447164.1:c.137T>G | XP_024302932.1:p.Leu46Ter | |
| XM_024447165.1:c.-587T>G | XP_024302933.1:n.-587T>G | |
| NM_002485.5:c.383T>G MANE Select | NP_002476.2:p.Leu128Ter | |
| NM_001024688.3:c.137T>G | NP_001019859.1:p.Leu46Ter |