Linked Data
dbSNP Id:
rs1554853421
gnomAD v2:
8-145581855-G-A
gnomAD v3:
8-144358195-G-A
gnomAD v4:
8-144358195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144358195G>A , CM000670.2:g.144358195G>A | GRCh38 |
| NC_000008.10:g.145581855G>A , CM000670.1:g.145581855G>A | GRCh37 |
| NC_000008.9:g.145552663G>A | NCBI36 |
| NG_032872.1:g.4639G>A | |
| NG_032872.2:g.4639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331890.6:c.253C>T (FBXL6) MANE Select | ENSP00000330098.5:p.Leu85Phe | |
| ENST00000532815.2:c.-111+593G>A (SLC52A2) | ENSP00000501933.1:n.-111+593G>A | |
| ENST00000675292.1:c.-110-989G>A (SLC52A2) | ENSP00000502652.1:n.-110-989G>A | |
| ENST00000675888.1:c.-110-989G>A (SLC52A2) | ENSP00000502294.1:n.-110-989G>A | |
| ENST00000331890.5:c.253C>T (FBXL6) | ENSP00000330098.5:p.Leu85Phe | |
| ENST00000455319.6:c.253C>T (FBXL6) | ENSP00000403873.2:p.Leu85Phe | |
| ENST00000524541.5:c.-110-989G>A (SLC52A2) | ENSP00000434239.1:n.-110-989G>A | |
| ENST00000530142.5:n.1079C>T (FBXL6) | ||
| ENST00000532815.1:n.399+593G>A (SLC52A2) | ||
| NM_012162.3:c.253C>T (FBXL6) | NP_036294.2:p.Leu85Phe | |
| NM_024555.5:c.253C>T (FBXL6) | NP_078831.4:p.Leu85Phe | |
| NM_012162.4:c.253C>T (FBXL6) MANE Select | NP_036294.2:p.Leu85Phe | |
| NM_024555.6:c.253C>T (FBXL6) | NP_078831.4:p.Leu85Phe |