Linked Data
dbSNP Id:
rs992031759
gnomAD v2:
19-35775809-G-T
gnomAD v3:
19-35284906-G-T
gnomAD v4:
19-35284906-G-T
MyVariant Identifiers:
chr19:g.35775809G>T (hg19)
chr19:g.35775809_35775810delinsTT (hg19)
chr19:g.35284906G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35284906G>T , CM000681.2:g.35284906G>T | GRCh38 |
| NC_000019.9:g.35775809G>T , CM000681.1:g.35775809G>T | GRCh37 |
| NC_000019.8:g.40467649G>T | NCBI36 |
| NG_011563.1:g.7400G>T | |
| NG_011563.2:g.7400G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222304.5:c.151-32G>T MANE Select | ENSP00000222304.2:n.151-32G>T | |
| ENST00000222304.3:c.151-32G>T | ENSP00000222304.2:n.151-32G>T | |
| ENST00000593580.1:n.2390G>T | ||
| ENST00000598398.5:c.151-32G>T | ENSP00000471894.1:n.151-32G>T | |
| NM_021175.2:c.151-32G>T | NP_066998.1:n.151-32G>T | |
| NM_021175.3:c.151-32G>T | NP_066998.1:n.151-32G>T | |
| NM_021175.4:c.151-32G>T MANE Select | NP_066998.1:n.151-32G>T |