Linked Data
dbSNP Id:
rs560216209
gnomAD v2:
19-4094362-G-T
gnomAD v3:
19-4094364-G-T
gnomAD v4:
19-4094364-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094364G>T , CM000681.2:g.4094364G>T | GRCh38 |
| NC_000019.9:g.4094362G>T , CM000681.1:g.4094362G>T | GRCh37 |
| NC_000019.8:g.4045362G>T | NCBI36 |
| NG_007996.1:g.34765C>A , LRG_750:g.34765C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1531+89C>A | ||
| ENST00000688002.1:n.3243+89C>A | ||
| ENST00000688751.1:n.228+89C>A | ||
| ENST00000689792.1:n.996+89C>A | ||
| ENST00000262948.10:c.1092+89C>A MANE Select | ENSP00000262948.4:n.1092+89C>A | |
| ENST00000262948.9:c.1092+89C>A | ENSP00000262948.3:n.1092+89C>A | |
| ENST00000394867.8:c.801+89C>A | ENSP00000378336.1:n.801+89C>A | |
| ENST00000597263.5:n.277+89C>A | ||
| ENST00000599021.1:c.202+89C>A | ||
| ENST00000600584.5:n.2541+89C>A | ||
| ENST00000601786.5:n.1393+89C>A | ||
| NM_030662.3:c.1092+89C>A , LRG_750t1:c.1092+89C>A | NP_109587.1:n.1092+89C>A | |
| XM_006722799.2:c.813+89C>A | XP_006722862.1:n.813+89C>A | |
| XM_011528133.1:c.522+89C>A | XP_011526435.1:n.522+89C>A | |
| NM_030662.4:c.1092+89C>A MANE Select | NP_109587.1:n.1092+89C>A |