Linked Data
ClinVar Variation Id:
1209378
ClinVar RCV Id:
RCV001578020
dbSNP Id:
rs181512820
ExAC:
19:4094527 C / T
gnomAD v2:
19-4094527-C-T
gnomAD v3:
19-4094529-C-T
gnomAD v4:
19-4094529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094529C>T , CM000681.2:g.4094529C>T | GRCh38 |
| NC_000019.9:g.4094527C>T , CM000681.1:g.4094527C>T | GRCh37 |
| NC_000019.8:g.4045527C>T | NCBI36 |
| NG_007996.1:g.34600G>A , LRG_750:g.34600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1486-31G>A | ||
| ENST00000688002.1:n.3198-31G>A | ||
| ENST00000688751.1:n.183-31G>A | ||
| ENST00000689792.1:n.951-31G>A | ||
| ENST00000262948.10:c.1047-31G>A MANE Select | ENSP00000262948.4:n.1047-31G>A | |
| ENST00000262948.9:c.1047-31G>A | ENSP00000262948.3:n.1047-31G>A | |
| ENST00000394867.8:c.756-31G>A | ENSP00000378336.1:n.756-31G>A | |
| ENST00000597263.5:n.232-31G>A | ||
| ENST00000599021.1:c.157-31G>A | ||
| ENST00000600584.5:n.2465G>A | ||
| ENST00000601786.5:n.1348-31G>A | ||
| NM_030662.3:c.1047-31G>A , LRG_750t1:c.1047-31G>A | NP_109587.1:n.1047-31G>A | |
| XM_006722799.2:c.768-31G>A | XP_006722862.1:n.768-31G>A | |
| XM_011528133.1:c.477-31G>A | XP_011526435.1:n.477-31G>A | |
| XM_017026989.1:c.*25G>A | XP_016882478.1:n.*25G>A | |
| XM_017026990.1:c.*25G>A | XP_016882479.1:n.*25G>A | |
| NM_030662.4:c.1047-31G>A MANE Select | NP_109587.1:n.1047-31G>A |