Linked Data
ClinVar Variation Id:
1126233
dbSNP Id:
rs2129909551
gnomAD v4:
8-89980815-C-T
MyVariant Identifiers:
chr8:g.90993043C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89980815C>T , CM000670.2:g.89980815C>T | GRCh38 |
| NC_000008.10:g.90993043C>T , CM000670.1:g.90993043C>T | GRCh37 |
| NC_000008.9:g.91062219C>T | NCBI36 |
| NG_008860.1:g.8857G>A , LRG_158:g.8857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.1701G>A | ||
| ENST00000517337.2:c.153G>A | ENSP00000429971.2:p.Leu51= | |
| ENST00000523444.2:c.153G>A | ENSP00000428252.2:p.Leu51= | |
| ENST00000697292.1:c.399G>A | ENSP00000513229.1:p.Leu133= | |
| ENST00000697293.1:c.399G>A | ENSP00000513230.1:p.Leu133= | |
| ENST00000697294.1:c.358G>A | ENSP00000513231.1:p.Ala120Thr | |
| ENST00000697295.1:c.37+3710G>A | ENSP00000513232.1:n.37+3710G>A | |
| ENST00000697296.1:c.*67G>A | ENSP00000513233.1:n.*67G>A | |
| ENST00000697297.1:n.2184G>A | ||
| ENST00000697298.1:c.153G>A | ENSP00000513234.1:p.Leu51= | |
| ENST00000697299.1:c.153G>A | ENSP00000513235.1:p.Leu51= | |
| ENST00000697300.1:c.153G>A | ENSP00000513236.1:p.Leu51= | |
| ENST00000697301.1:c.112G>A | ENSP00000513237.1:p.Ala38Thr | |
| ENST00000697302.1:c.358G>A | ENSP00000513238.1:p.Ala120Thr | |
| ENST00000697303.1:c.399G>A | ENSP00000513239.1:p.Leu133= | |
| ENST00000697304.1:c.399G>A | ENSP00000513240.1:p.Leu133= | |
| ENST00000697306.1:c.399G>A | ENSP00000513241.1:p.Leu133= | |
| ENST00000697307.1:c.399G>A | ENSP00000513242.1:p.Leu133= | |
| ENST00000697308.1:c.399G>A | ENSP00000513243.1:p.Leu133= | |
| ENST00000697309.1:c.399G>A | ENSP00000513244.1:p.Leu133= | |
| ENST00000697310.1:c.399G>A | ENSP00000513245.1:p.Leu133= | |
| ENST00000697311.1:c.399G>A | ENSP00000513246.1:p.Leu133= | |
| ENST00000697312.1:c.399G>A | ENSP00000513247.1:p.Leu133= | |
| ENST00000697313.1:n.2190G>A | ||
| ENST00000697314.1:n.2190G>A | ||
| ENST00000697315.1:c.399G>A | ENSP00000513248.1:p.Leu133= | |
| ENST00000697316.1:n.520G>A | ||
| ENST00000697317.1:n.509G>A | ||
| ENST00000697318.1:n.511G>A | ||
| ENST00000265433.8:c.399G>A MANE Select | ENSP00000265433.4:p.Leu133= | |
| ENST00000265433.7:c.399G>A | ENSP00000265433.3:p.Leu133= | |
| ENST00000396252.6:c.*272G>A | ENSP00000379551.2:n.*272G>A | |
| ENST00000409330.5:c.153G>A | ENSP00000386924.1:p.Leu51= | |
| ENST00000517337.1:c.153G>A | ENSP00000429971.1:p.Leu51= | |
| ENST00000517772.5:c.153G>A | ENSP00000428717.1:p.Leu51= | |
| ENST00000519426.5:c.320+560G>A | ENSP00000430983.1:n.320+560G>A | |
| ENST00000523444.1:c.*231G>A | ENSP00000428252.1:n.*231G>A | |
| NM_001024688.2:c.153G>A | NP_001019859.1:p.Leu51= | |
| NM_002485.4:c.399G>A , LRG_158t1:c.399G>A | NP_002476.2:p.Leu133= | |
| XM_011517044.1:c.375G>A | XP_011515346.1:p.Leu125= | |
| XM_011517045.1:c.153G>A | XP_011515347.1:p.Leu51= | |
| XM_011517046.1:c.399G>A | XP_011515348.1:p.Leu133= | |
| XR_928335.1:n.536G>A | ||
| XM_017013460.1:c.-571G>A | XP_016868949.1:n.-571G>A | |
| XM_017013462.2:c.-377G>A | XP_016868951.1:n.-377G>A | |
| XM_024447163.1:c.153G>A | XP_024302931.1:p.Leu51= | |
| XM_024447164.1:c.153G>A | XP_024302932.1:p.Leu51= | |
| XM_024447165.1:c.-571G>A | XP_024302933.1:n.-571G>A | |
| NM_002485.5:c.399G>A MANE Select | NP_002476.2:p.Leu133= | |
| NM_001024688.3:c.153G>A | NP_001019859.1:p.Leu51= |