HGVS | Genome Assembly |
---|---|
NC_000008.11:g.144358193G>T , CM000670.2:g.144358193G>T | GRCh38 |
NC_000008.10:g.145581853G>T , CM000670.1:g.145581853G>T | GRCh37 |
NC_000008.9:g.145552661G>T | NCBI36 |
NG_032872.1:g.4637G>T | |
NG_032872.2:g.4637G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331890.6:c.255C>A (FBXL6) MANE Select | ENSP00000330098.5:p.Leu85= | |
ENST00000532815.2:c.-111+591G>T (SLC52A2) | ENSP00000501933.1:n.-111+591G>T | |
ENST00000675292.1:c.-110-991G>T (SLC52A2) | ENSP00000502652.1:n.-110-991G>T | |
ENST00000675888.1:c.-110-991G>T (SLC52A2) | ENSP00000502294.1:n.-110-991G>T | |
ENST00000331890.5:c.255C>A (FBXL6) | ENSP00000330098.5:p.Leu85= | |
ENST00000455319.6:c.255C>A (FBXL6) | ENSP00000403873.2:p.Leu85= | |
ENST00000524541.5:c.-110-991G>T (SLC52A2) | ENSP00000434239.1:n.-110-991G>T | |
ENST00000530142.5:n.1081C>A (FBXL6) | ||
ENST00000532815.1:n.399+591G>T (SLC52A2) | ||
NM_012162.3:c.255C>A (FBXL6) | NP_036294.2:p.Leu85= | |
NM_024555.5:c.255C>A (FBXL6) | NP_078831.4:p.Leu85= | |
NM_012162.4:c.255C>A (FBXL6) MANE Select | NP_036294.2:p.Leu85= | |
NM_024555.6:c.255C>A (FBXL6) | NP_078831.4:p.Leu85= |