Linked Data
ClinVar Variation Id:
138163
dbSNP Id:
rs587781029
gnomAD v2:
19-4095373-C-T
gnomAD v3:
19-4095375-C-T
gnomAD v4:
19-4095375-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095375C>T , CM000681.2:g.4095375C>T | GRCh38 |
| NC_000019.9:g.4095373C>T , CM000681.1:g.4095373C>T | GRCh37 |
| NC_000019.8:g.4046373C>T | NCBI36 |
| NG_007996.1:g.33754G>A , LRG_750:g.33754G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1485+13G>A | ||
| ENST00000688002.1:n.3197+13G>A | ||
| ENST00000688751.1:n.182+13G>A | ||
| ENST00000689792.1:n.950+13G>A | ||
| ENST00000262948.10:c.1046+13G>A MANE Select | ENSP00000262948.4:n.1046+13G>A | |
| ENST00000262948.9:c.1046+13G>A | ENSP00000262948.3:n.1046+13G>A | |
| ENST00000394867.8:c.755+13G>A | ENSP00000378336.1:n.755+13G>A | |
| ENST00000597263.5:n.231+13G>A | ||
| ENST00000599021.1:c.156+13G>A | ||
| ENST00000600584.5:n.1619G>A | ||
| ENST00000601786.5:n.1347+13G>A | ||
| NM_030662.3:c.1046+13G>A , LRG_750t1:c.1046+13G>A | NP_109587.1:n.1046+13G>A | |
| XM_006722799.2:c.767+13G>A | XP_006722862.1:n.767+13G>A | |
| XM_011528133.1:c.476+13G>A | XP_011526435.1:n.476+13G>A | |
| XM_017026989.1:c.1046+13G>A | XP_016882478.1:n.1046+13G>A | |
| XM_017026990.1:c.767+13G>A | XP_016882479.1:n.767+13G>A | |
| NM_030662.4:c.1046+13G>A MANE Select | NP_109587.1:n.1046+13G>A |