HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104057166T>A , CM000672.2:g.104057166T>A | GRCh38 |
NC_000010.10:g.105816924T>A , CM000672.1:g.105816924T>A | GRCh37 |
NC_000010.9:g.105806914T>A | NCBI36 |
NG_007069.1:g.33715A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.1274A>T | ENSP00000358748.3:p.His425Leu | |
ENST00000648076.2:c.1274A>T MANE Select | ENSP00000497653.1:p.His425Leu | |
ENST00000650263.1:c.1226A>T | ENSP00000497850.1:p.His409Leu | |
ENST00000353479.9:c.1274A>T | ENSP00000340937.5:p.His425Leu | |
ENST00000369733.7:c.1274A>T | ENSP00000358748.3:p.His425Leu | |
NM_000494.3:c.1274A>T | NP_000485.3:p.His425Leu | |
NM_000494.4:c.1274A>T MANE Select | NP_000485.3:p.His425Leu |