Linked Data
dbSNP Id:
rs770252645
ExAC:
19:4090571 C / T
gnomAD v2:
19-4090571-C-T
gnomAD v3:
19-4090573-C-T
gnomAD v4:
19-4090573-C-T
MyVariant Identifiers:
chr19:g.4090571C>T (hg19)
chr19:g.4090571_4090573delinsTGG (hg19)
chr19:g.4090573C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090573C>T , CM000681.2:g.4090573C>T | GRCh38 |
| NC_000019.9:g.4090571C>T , CM000681.1:g.4090571C>T | GRCh37 |
| NC_000019.8:g.4041571C>T | NCBI36 |
| NG_007996.1:g.38556G>A , LRG_750:g.38556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1667G>A | ||
| ENST00000688002.1:n.3379G>A | ||
| ENST00000688751.1:n.364G>A | ||
| ENST00000689792.1:n.1132G>A | ||
| ENST00000262948.10:c.*25G>A MANE Select | ENSP00000262948.4:n.*25G>A | |
| ENST00000262948.9:c.*25G>A | ENSP00000262948.3:n.*25G>A | |
| ENST00000394867.8:c.*25G>A | ENSP00000378336.1:n.*25G>A | |
| ENST00000597263.5:n.413G>A | ||
| ENST00000600584.5:n.2677G>A | ||
| ENST00000601786.5:n.1529G>A | ||
| NM_030662.3:c.*25G>A , LRG_750t1:c.*25G>A | NP_109587.1:n.*25G>A | |
| XM_006722799.2:c.*25G>A | XP_006722862.1:n.*25G>A | |
| XM_011528133.1:c.*25G>A | XP_011526435.1:n.*25G>A | |
| NM_030662.4:c.*25G>A MANE Select | NP_109587.1:n.*25G>A |