Linked Data
ClinVar Variation Id:
2335696
ClinVar RCV Id:
RCV004173440
dbSNP Id:
rs1554853422
gnomAD v2:
8-145581858-C-T
gnomAD v3:
8-144358198-C-T
gnomAD v4:
8-144358198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144358198C>T , CM000670.2:g.144358198C>T | GRCh38 |
| NC_000008.10:g.145581858C>T , CM000670.1:g.145581858C>T | GRCh37 |
| NC_000008.9:g.145552666C>T | NCBI36 |
| NG_032872.1:g.4642C>T | |
| NG_032872.2:g.4642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331890.6:c.250G>A (FBXL6) MANE Select | ENSP00000330098.5:p.Gly84Arg | |
| ENST00000532815.2:c.-111+596C>T (SLC52A2) | ENSP00000501933.1:n.-111+596C>T | |
| ENST00000675292.1:c.-110-986C>T (SLC52A2) | ENSP00000502652.1:n.-110-986C>T | |
| ENST00000675888.1:c.-110-986C>T (SLC52A2) | ENSP00000502294.1:n.-110-986C>T | |
| ENST00000331890.5:c.250G>A (FBXL6) | ENSP00000330098.5:p.Gly84Arg | |
| ENST00000455319.6:c.250G>A (FBXL6) | ENSP00000403873.2:p.Gly84Arg | |
| ENST00000524541.5:c.-110-986C>T (SLC52A2) | ENSP00000434239.1:n.-110-986C>T | |
| ENST00000530142.5:n.1076G>A (FBXL6) | ||
| ENST00000532815.1:n.399+596C>T (SLC52A2) | ||
| NM_012162.3:c.250G>A (FBXL6) | NP_036294.2:p.Gly84Arg | |
| NM_024555.5:c.250G>A (FBXL6) | NP_078831.4:p.Gly84Arg | |
| NM_012162.4:c.250G>A (FBXL6) MANE Select | NP_036294.2:p.Gly84Arg | |
| NM_024555.6:c.250G>A (FBXL6) | NP_078831.4:p.Gly84Arg |