Linked Data
ClinVar Variation Id:
162823
ClinVar RCV Id:
RCV000150232
dbSNP Id:
rs727502911
gnomAD v4:
1-115768523-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768523A>G , CM000663.2:g.115768523A>G | GRCh38 |
| NC_000001.10:g.116311144A>G , CM000663.1:g.116311144A>G | GRCh37 |
| NC_000001.9:g.116112667A>G | NCBI36 |
| NG_008802.1:g.5283T>C , LRG_404:g.5283T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-223-35T>C | ENSP00000518226.1:n.-223-35T>C | |
| ENST00000261448.6:c.19T>C MANE Select | ENSP00000261448.5:p.Phe7Leu | |
| ENST00000261448.5:c.19T>C | ENSP00000261448.5:p.Phe7Leu | |
| NM_001232.3:c.19T>C , LRG_404t1:c.19T>C | NP_001223.2:p.Phe7Leu | |
| NM_001232.4:c.19T>C MANE Select | NP_001223.2:p.Phe7Leu |