Linked Data
dbSNP Id:
rs753824471
ExAC:
19:17937596 T / C
gnomAD v2:
19-17937596-T-C
gnomAD v3:
19-17826787-T-C
gnomAD v4:
19-17826787-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826787T>C , CM000681.2:g.17826787T>C | GRCh38 |
| NC_000019.9:g.17937596T>C , CM000681.1:g.17937596T>C | GRCh37 |
| NC_000019.8:g.17798596T>C | NCBI36 |
| NG_007273.1:g.26205A>G , LRG_77:g.26205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1888A>G | ENSP00000513006.1:n.*1888A>G | |
| ENST00000696967.1:n.2508A>G | ||
| ENST00000696968.1:n.564A>G | ||
| ENST00000696969.1:n.2288A>G | ||
| ENST00000458235.7:c.3331A>G MANE Select | ENSP00000391676.1:p.Thr1111Ala | |
| ENST00000458235.5:c.3331A>G | ENSP00000391676.1:p.Thr1111Ala | |
| ENST00000527031.5:n.2279-1477A>G | ||
| ENST00000527670.5:c.3331A>G | ENSP00000432511.1:p.Thr1111Ala | |
| NM_000215.3:c.3331A>G , LRG_77t1:c.3331A>G | NP_000206.2:p.Thr1111Ala | |
| XM_005259896.2:c.3460A>G | XP_005259953.1:p.Thr1154Ala | |
| XM_006722745.2:c.3331A>G | XP_006722808.1:p.Thr1111Ala | |
| XM_005259896.3:c.3460A>G | XP_005259953.1:p.Thr1154Ala | |
| NM_000215.4:c.3331A>G MANE Select | NP_000206.2:p.Thr1111Ala |