Linked Data
ClinVar Variation Id:
9119
ClinVar RCV Id:
RCV000009689
dbSNP Id:
rs137852670
PubMed:
PMID:15290238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68929229C>G , CM000673.2:g.68929229C>G | GRCh38 |
| NC_000011.9:g.68696697C>G , CM000673.1:g.68696697C>G | GRCh37 |
| NC_000011.8:g.68453273C>G | NCBI36 |
| NG_007976.1:g.30379C>G , LRG_250:g.30379C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1107C>G MANE Select | ENSP00000255078.4:p.Phe369Leu | |
| ENST00000674698.1:n.47C>G | ||
| ENST00000674745.1:c.272C>G | ENSP00000502738.1:n.272C>G | |
| ENST00000674775.1:n.307C>G | ||
| ENST00000674955.1:c.1107C>G | ENSP00000502463.1:p.Phe369Leu | |
| ENST00000675118.1:c.595C>G | ||
| ENST00000675305.1:c.427C>G | ENSP00000502365.1:n.427C>G | |
| ENST00000675310.1:n.47C>G | ||
| ENST00000675493.1:n.268C>G | ||
| ENST00000675615.1:c.1107C>G | ENSP00000502413.1:p.Phe369Leu | |
| ENST00000675648.1:n.482C>G | ||
| ENST00000675684.1:c.234C>G | ENSP00000502192.1:p.Phe78Leu | |
| ENST00000675755.1:n.47C>G | ||
| ENST00000676083.1:n.47C>G | ||
| ENST00000676173.1:n.1151C>G | ||
| ENST00000676228.1:c.*430C>G | ENSP00000502375.1:n.*430C>G | |
| ENST00000676240.1:n.47C>G | ||
| ENST00000676400.1:n.47C>G | ||
| ENST00000255078.7:c.1107C>G | ENSP00000255078.3:p.Phe369Leu | |
| ENST00000568742.1:n.217C>G | ||
| NM_002180.2:c.1107C>G , LRG_250t1:c.1107C>G | NP_002171.2:p.Phe369Leu | |
| XM_005273974.2:c.96C>G | XP_005274031.1:p.Phe32Leu | |
| XM_005273976.1:c.1107C>G | XP_005274033.1:p.Phe369Leu | |
| XR_247198.1:n.1209C>G | ||
| XR_949903.1:n.1209C>G | ||
| XM_005273976.2:c.1107C>G | XP_005274033.1:p.Phe369Leu | |
| XM_017017669.2:c.96C>G | XP_016873158.1:p.Phe32Leu | |
| XM_017017670.2:c.96C>G | XP_016873159.1:p.Phe32Leu | |
| XM_017017671.2:c.1107C>G | XP_016873160.1:p.Phe369Leu | |
| XR_949903.3:n.1205C>G | ||
| NM_002180.3:c.1107C>G MANE Select | NP_002171.2:p.Phe369Leu |