Linked Data
ClinVar Variation Id:
328484
ClinVar RCV Id:
RCV000378961
dbSNP Id:
rs886054274
gnomAD v2:
19-17936899-A-T
gnomAD v3:
19-17826090-A-T
gnomAD v4:
19-17826090-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826090A>T , CM000681.2:g.17826090A>T | GRCh38 |
| NC_000019.9:g.17936899A>T , CM000681.1:g.17936899A>T | GRCh37 |
| NC_000019.8:g.17797899A>T | NCBI36 |
| NG_007273.1:g.26902T>A , LRG_77:g.26902T>A | |
| NG_012092.1:g.422T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696967.1:n.3205T>A | ||
| ENST00000696968.1:n.1261T>A | ||
| ENST00000458235.7:c.*653T>A MANE Select | ENSP00000391676.1:n.*653T>A | |
| ENST00000458235.5:c.*653T>A | ENSP00000391676.1:n.*653T>A | |
| ENST00000527031.5:n.2279-780T>A | ||
| NM_000215.3:c.*653T>A , LRG_77t1:c.*653T>A | NP_000206.2:n.*653T>A | |
| XM_005259896.2:c.*653T>A | XP_005259953.1:n.*653T>A | |
| XM_005259896.3:c.*653T>A | XP_005259953.1:n.*653T>A | |
| NM_000215.4:c.*653T>A MANE Select | NP_000206.2:n.*653T>A |