Linked Data
ClinVar Variation Id:
93363
dbSNP Id:
rs114178789
ExAC:
19:41925012 G / A
gnomAD v2:
19-41925012-G-A
gnomAD v3:
19-41419107-G-A
gnomAD v4:
19-41419107-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41419107G>A , CM000681.2:g.41419107G>A | GRCh38 |
| NC_000019.9:g.41925012G>A , CM000681.1:g.41925012G>A | GRCh37 |
| NC_000019.8:g.46616852G>A | NCBI36 |
| NG_013004.1:g.26319G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.485-28G>A MANE Select | ENSP00000269980.2:n.485-28G>A | |
| ENST00000269980.6:c.485-28G>A | ENSP00000269980.2:n.485-28G>A | |
| ENST00000457836.6:c.419-28G>A | ENSP00000416000.2:n.419-28G>A | |
| ENST00000535632.5:n.114-28G>A | ||
| ENST00000538423.5:n.611-28G>A | ||
| ENST00000540732.3:c.587-28G>A | ENSP00000443246.1:n.587-28G>A | |
| ENST00000541315.1:c.385-28G>A | ||
| ENST00000542943.5:c.398-28G>A | ENSP00000440345.1:n.398-28G>A | |
| ENST00000545787.1:n.85G>A | ||
| ENST00000595085.5:c.485-28G>A | ENSP00000471150.2:n.485-28G>A | |
| NM_000709.3:c.485-28G>A | NP_000700.1:n.485-28G>A | |
| NM_001164783.1:c.485-28G>A | NP_001158255.1:n.485-28G>A | |
| NM_000709.4:c.485-28G>A MANE Select | NP_000700.1:n.485-28G>A | |
| NM_001164783.2:c.485-28G>A | NP_001158255.1:n.485-28G>A |