Linked Data
ClinVar Variation Id:
133378
ClinVar RCV Id:
RCV000119879
dbSNP Id:
rs114390941
ExAC:
19:52693509 T / G
gnomAD v2:
19-52693509-T-G
gnomAD v3:
19-52190256-T-G
gnomAD v4:
19-52190256-T-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52190256T>G , CM000681.2:g.52190256T>G | GRCh38 |
| NC_000019.9:g.52693509T>G , CM000681.1:g.52693509T>G | GRCh37 |
| NC_000019.8:g.57385321T>G | NCBI36 |
| NG_047068.1:g.5455T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.160T>G | ENSP00000391905.3:p.Phe54Val | |
| ENST00000703395.1:c.-459-11688T>G | ENSP00000515286.1:n.-459-11688T>G | |
| ENST00000703396.1:n.123+82T>G | ||
| ENST00000703397.1:c.-657+82T>G | ENSP00000515287.1:n.-657+82T>G | |
| ENST00000703398.1:c.78+82T>G | ENSP00000515288.1:n.78+82T>G | |
| ENST00000703421.1:n.231+1100T>G | ||
| ENST00000703422.1:c.78+82T>G | ENSP00000515292.1:n.78+82T>G | |
| ENST00000322088.11:c.78+82T>G MANE Select | ENSP00000324804.6:n.78+82T>G | |
| ENST00000322088.10:c.78+82T>G | ENSP00000324804.6:n.78+82T>G | |
| ENST00000454220.6:c.160T>G | ENSP00000391905.2:p.Phe54Val | |
| ENST00000468280.5:n.61+82T>G | ||
| ENST00000477989.1:c.78+82T>G | ENSP00000471298.1:n.78+82T>G | |
| ENST00000490868.5:c.78+82T>G | ENSP00000469150.1:n.78+82T>G | |
| ENST00000628959.1:c.78+82T>G | ENSP00000485914.1:n.78+82T>G | |
| NM_014225.5:c.78+82T>G | NP_055040.2:n.78+82T>G | |
| NR_033500.1:n.373+82T>G | ||
| NM_014225.6:c.78+82T>G MANE Select | NP_055040.2:n.78+82T>G | |
| NR_033500.2:n.123+82T>G |