Linked Data
ClinVar Variation Id:
327893
dbSNP Id:
rs201308454
ExAC:
19:10251567 G / C
gnomAD v2:
19-10251567-G-C
gnomAD v3:
19-10140891-G-C
gnomAD v4:
19-10140891-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10140891G>C , CM000681.2:g.10140891G>C | GRCh38 |
| NC_000019.9:g.10251567G>C , CM000681.1:g.10251567G>C | GRCh37 |
| NC_000019.8:g.10112567G>C | NCBI36 |
| NG_028016.3:g.95396C>G , LRG_362:g.95396C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.3413C>G MANE Select | ENSP00000352516.3:p.Ser1138Cys | |
| ENST00000586667.2:n.1448C>G | ||
| ENST00000589351.6:n.849C>G | ||
| ENST00000676604.1:n.3025C>G | ||
| ENST00000676610.1:c.3365C>G | ENSP00000504236.1:p.Ser1122Cys | |
| ENST00000676820.1:n.4259C>G | ||
| ENST00000676868.1:n.4049C>G | ||
| ENST00000677013.1:c.*3055C>G | ENSP00000503135.1:n.*3055C>G | |
| ENST00000677250.1:c.*2485C>G | ENSP00000502894.1:n.*2485C>G | |
| ENST00000677616.1:c.3056C>G | ENSP00000503055.1:p.Ser1019Cys | |
| ENST00000677634.1:c.3313C>G | ENSP00000504246.1:p.Pro1105Ala | |
| ENST00000677685.1:c.*2590C>G | ENSP00000503407.1:n.*2590C>G | |
| ENST00000677783.1:n.4673C>G | ||
| ENST00000677946.1:c.3365C>G | ENSP00000504202.1:p.Ser1122Cys | |
| ENST00000678024.1:n.4346C>G | ||
| ENST00000678647.1:n.1498C>G | ||
| ENST00000678694.1:n.2686C>G | ||
| ENST00000678804.1:c.3365C>G | ENSP00000503853.1:p.Ser1122Cys | |
| ENST00000678957.1:n.849C>G | ||
| ENST00000679100.1:n.1552C>G | ||
| ENST00000679103.1:c.3365C>G | ENSP00000503151.1:p.Ser1122Cys | |
| ENST00000679313.1:c.3365C>G | ENSP00000504512.1:p.Ser1122Cys | |
| ENST00000340748.8:c.3365C>G | ENSP00000345739.3:p.Ser1122Cys | |
| ENST00000359526.8:c.3413C>G | ENSP00000352516.3:p.Ser1138Cys | |
| ENST00000540357.5:c.2357C>G | ENSP00000440457.2:p.Ser786Cys | |
| ENST00000586588.5:n.1286C>G | ||
| ENST00000587604.1:n.151C>G | ||
| ENST00000589091.1:n.361C>G | ||
| ENST00000589351.5:n.487C>G | ||
| ENST00000589538.5:n.433C>G | ||
| ENST00000592705.5:c.*3103C>G | ENSP00000466657.1:n.*3103C>G | |
| ENST00000593049.5:n.375C>G | ||
| NM_001130823.1:c.3413C>G , LRG_362t1:c.3413C>G | NP_001124295.1:p.Ser1138Cys | |
| NM_001379.2:c.3365C>G | NP_001370.1:p.Ser1122Cys | |
| XM_011527772.1:c.3413C>G | XP_011526074.1:p.Ser1138Cys | |
| XM_011527773.1:c.3365C>G | XP_011526075.1:p.Ser1122Cys | |
| XM_011527774.1:c.3002C>G | XP_011526076.1:p.Ser1001Cys | |
| NM_001130823.2:c.3413C>G | NP_001124295.1:p.Ser1138Cys | |
| NM_001318730.1:c.3365C>G | NP_001305659.1:p.Ser1122Cys | |
| NM_001318731.1:c.3050C>G | NP_001305660.1:p.Ser1017Cys | |
| NM_001379.3:c.3365C>G | NP_001370.1:p.Ser1122Cys | |
| NM_001130823.3:c.3413C>G MANE Select | NP_001124295.1:p.Ser1138Cys | |
| NM_001318730.2:c.3365C>G | NP_001305659.1:p.Ser1122Cys | |
| NM_001318731.2:c.3050C>G | NP_001305660.1:p.Ser1017Cys | |
| NM_001379.4:c.3365C>G | NP_001370.1:p.Ser1122Cys |