Linked Data
ClinVar Variation Id:
257539
dbSNP Id:
rs16999593
ExAC:
19:10291181 T / C
gnomAD v2:
19-10291181-T-C
gnomAD v3:
19-10180505-T-C
gnomAD v4:
19-10180505-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10180505T>C , CM000681.2:g.10180505T>C | GRCh38 |
| NC_000019.9:g.10291181T>C , CM000681.1:g.10291181T>C | GRCh37 |
| NC_000019.8:g.10152181T>C | NCBI36 |
| NG_028016.3:g.55782A>G , LRG_362:g.55782A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.290A>G MANE Select | ENSP00000352516.3:p.His97Arg | |
| ENST00000676610.1:c.290A>G | ENSP00000504236.1:p.His97Arg | |
| ENST00000676820.1:n.346A>G | ||
| ENST00000677013.1:c.250A>G | ENSP00000503135.1:p.Met84Val | |
| ENST00000677250.1:c.290A>G | ENSP00000502894.1:p.His97Arg | |
| ENST00000677616.1:c.-74A>G | ENSP00000503055.1:n.-74A>G | |
| ENST00000677634.1:c.290A>G | ENSP00000504246.1:p.His97Arg | |
| ENST00000677685.1:c.225+273A>G | ENSP00000503407.1:n.225+273A>G | |
| ENST00000677946.1:c.290A>G | ENSP00000504202.1:p.His97Arg | |
| ENST00000678804.1:c.290A>G | ENSP00000503853.1:p.His97Arg | |
| ENST00000679103.1:c.290A>G | ENSP00000503151.1:p.His97Arg | |
| ENST00000679313.1:c.290A>G | ENSP00000504512.1:p.His97Arg | |
| ENST00000340748.8:c.290A>G | ENSP00000345739.3:p.His97Arg | |
| ENST00000359526.8:c.290A>G | ENSP00000352516.3:p.His97Arg | |
| ENST00000540357.5:c.-560-3141A>G | ENSP00000440457.2:n.-560-3141A>G | |
| ENST00000586086.1:n.447A>G | ||
| ENST00000586800.5:c.-74A>G | ENSP00000465555.1:n.-74A>G | |
| ENST00000586988.5:c.*118A>G | ENSP00000464958.1:n.*118A>G | |
| ENST00000588118.5:c.455A>G | ENSP00000465223.1:p.His152Arg | |
| ENST00000588952.5:c.-74A>G | ENSP00000467050.1:n.-74A>G | |
| ENST00000592054.5:c.-74A>G | ENSP00000468359.1:n.-74A>G | |
| ENST00000592342.5:c.-74A>G | ENSP00000465993.1:n.-74A>G | |
| ENST00000592705.5:c.250A>G | ENSP00000466657.1:p.Met84Val | |
| NM_001130823.1:c.290A>G , LRG_362t1:c.290A>G | NP_001124295.1:p.His97Arg | |
| NM_001379.2:c.290A>G | NP_001370.1:p.His97Arg | |
| XM_011527772.1:c.290A>G | XP_011526074.1:p.His97Arg | |
| XM_011527773.1:c.290A>G | XP_011526075.1:p.His97Arg | |
| XM_011527774.1:c.-74A>G | XP_011526076.1:n.-74A>G | |
| NM_001130823.2:c.290A>G | NP_001124295.1:p.His97Arg | |
| NM_001318730.1:c.290A>G | NP_001305659.1:p.His97Arg | |
| NM_001318731.1:c.-74A>G | NP_001305660.1:n.-74A>G | |
| NM_001379.3:c.290A>G | NP_001370.1:p.His97Arg | |
| NM_001130823.3:c.290A>G MANE Select | NP_001124295.1:p.His97Arg | |
| NM_001318730.2:c.290A>G | NP_001305659.1:p.His97Arg | |
| NM_001318731.2:c.-74A>G | NP_001305660.1:n.-74A>G | |
| NM_001379.4:c.290A>G | NP_001370.1:p.His97Arg |