Linked Data
ClinVar Variation Id:
561446
ClinVar RCV Id:
RCV000680742
dbSNP Id:
rs559885829
gnomAD v2:
19-4094708-C-T
gnomAD v3:
19-4094710-C-T
gnomAD v4:
19-4094710-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094710C>T , CM000681.2:g.4094710C>T | GRCh38 |
| NC_000019.9:g.4094708C>T , CM000681.1:g.4094708C>T | GRCh37 |
| NC_000019.8:g.4045708C>T | NCBI36 |
| NG_007996.1:g.34419G>A , LRG_750:g.34419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1486-212G>A | ||
| ENST00000688002.1:n.3198-212G>A | ||
| ENST00000688751.1:n.183-212G>A | ||
| ENST00000689792.1:n.951-212G>A | ||
| ENST00000262948.10:c.1047-212G>A MANE Select | ENSP00000262948.4:n.1047-212G>A | |
| ENST00000262948.9:c.1047-212G>A | ENSP00000262948.3:n.1047-212G>A | |
| ENST00000394867.8:c.756-212G>A | ENSP00000378336.1:n.756-212G>A | |
| ENST00000597263.5:n.232-212G>A | ||
| ENST00000599021.1:c.157-212G>A | ||
| ENST00000600584.5:n.2284G>A | ||
| ENST00000601786.5:n.1348-212G>A | ||
| NM_030662.3:c.1047-212G>A , LRG_750t1:c.1047-212G>A | NP_109587.1:n.1047-212G>A | |
| XM_006722799.2:c.768-212G>A | XP_006722862.1:n.768-212G>A | |
| XM_011528133.1:c.477-212G>A | XP_011526435.1:n.477-212G>A | |
| XM_017026989.1:c.1383G>A | XP_016882478.1:p.Gly461= | |
| XM_017026990.1:c.1104G>A | XP_016882479.1:p.Gly368= | |
| NM_030662.4:c.1047-212G>A MANE Select | NP_109587.1:n.1047-212G>A |