Linked Data
ClinVar Variation Id:
15402
ClinVar RCV Id:
RCV000016656
RCV000254827
RCV000379715
RCV001197268
RCV001004570
RCV002221479
RCV002288499
RCV002476976
RCV002336086
RCV003987324
RCV004532366
dbSNP Id:
rs11549407
ExAC:
11:5248004 G / A
gnomAD v2:
11-5248004-G-A
gnomAD v3:
11-5226774-G-A
gnomAD v4:
11-5226774-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226774G>A , CM000673.2:g.5226774G>A | GRCh38 |
| NC_000011.9:g.5248004G>A , CM000673.1:g.5248004G>A | GRCh37 |
| NC_000011.8:g.5204580G>A | NCBI36 |
| NG_000007.3:g.70842C>T | |
| NG_059281.1:g.5298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.118C>T | ENSP00000494175.1:p.Gln40Ter | |
| ENST00000335295.4:c.118C>T MANE Select | ENSP00000333994.3:p.Gln40Ter | |
| ENST00000380315.2:c.118C>T | ENSP00000369671.2:p.Gln40Ter | |
| ENST00000475226.1:n.50C>T | ||
| ENST00000485743.1:n.169C>T | ||
| ENST00000633227.1:c.102C>T | ENSP00000488004.1:p.Pro34= | |
| NM_000518.4:c.118C>T | NP_000509.1:p.Gln40Ter | |
| NM_000518.5:c.118C>T MANE Select | NP_000509.1:p.Gln40Ter |