Linked Data
ClinVar Variation Id:
46228
ClinVar RCV Id:
RCV003741149
dbSNP Id:
rs369681843
ExAC:
19:4090712 A / G
gnomAD v2:
19-4090712-A-G
gnomAD v3:
19-4090714-A-G
gnomAD v4:
19-4090714-A-G
ERepo:
CA137912/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090714A>G , CM000681.2:g.4090714A>G | GRCh38 |
| NC_000019.9:g.4090712A>G , CM000681.1:g.4090712A>G | GRCh37 |
| NC_000019.8:g.4041712A>G | NCBI36 |
| NG_007996.1:g.38415T>C , LRG_750:g.38415T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1532-6T>C | ||
| ENST00000688002.1:n.3244-6T>C | ||
| ENST00000688751.1:n.229-6T>C | ||
| ENST00000689792.1:n.997-6T>C | ||
| ENST00000262948.10:c.1093-6T>C MANE Select | ENSP00000262948.4:n.1093-6T>C | |
| ENST00000262948.9:c.1093-6T>C | ENSP00000262948.3:n.1093-6T>C | |
| ENST00000394867.8:c.802-6T>C | ENSP00000378336.1:n.802-6T>C | |
| ENST00000597263.5:n.278-6T>C | ||
| ENST00000599021.1:c.203-6T>C | ||
| ENST00000600584.5:n.2542-6T>C | ||
| ENST00000601786.5:n.1394-6T>C | ||
| NM_030662.3:c.1093-6T>C , LRG_750t1:c.1093-6T>C | NP_109587.1:n.1093-6T>C | |
| XM_006722799.2:c.814-6T>C | XP_006722862.1:n.814-6T>C | |
| XM_011528133.1:c.523-6T>C | XP_011526435.1:n.523-6T>C | |
| NM_030662.4:c.1093-6T>C MANE Select | NP_109587.1:n.1093-6T>C |