Linked Data
ClinVar Variation Id:
1440223
ClinVar RCV Id:
RCV001950351
dbSNP Id:
rs2043497341
gnomAD v4:
15-48485405-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48485405A>C , CM000677.2:g.48485405A>C | GRCh38 |
| NC_000015.9:g.48777602A>C , CM000677.1:g.48777602A>C | GRCh37 |
| NC_000015.8:g.46564894A>C | NCBI36 |
| NG_008805.2:g.165384T>G , LRG_778:g.165384T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3681T>G | ENSP00000453958.2:p.Phe1227Leu | |
| ENST00000674301.2:c.3681T>G | ENSP00000501333.2:p.Phe1227Leu | |
| ENST00000684448.1:n.2355T>G | ||
| ENST00000316623.10:c.3681T>G MANE Select | ENSP00000325527.5:p.Phe1227Leu | |
| ENST00000316623.9:c.3681T>G | ENSP00000325527.5:p.Phe1227Leu | |
| ENST00000537463.6:c.637-10755T>G | ENSP00000440294.2:n.637-10755T>G | |
| NM_000138.4:c.3681T>G , LRG_778t1:c.3681T>G | NP_000129.3:p.Phe1227Leu | |
| NM_000138.5:c.3681T>G MANE Select | NP_000129.3:p.Phe1227Leu |