HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149980775T>C , CM000667.2:g.149980775T>C | GRCh38 |
NC_000005.9:g.149360338T>C , CM000667.1:g.149360338T>C | GRCh37 |
NC_000005.8:g.149340531T>C | NCBI36 |
NG_007147.2:g.21893T>C , LRG_684:g.21893T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286298.5:c.1182T>C MANE Select | ENSP00000286298.4:p.Phe394= | |
ENST00000286298.4:c.1182T>C | ENSP00000286298.4:p.Phe394= | |
ENST00000503336.1:c.372+2424T>C | ENSP00000426053.1:n.372+2424T>C | |
NM_000112.3:c.1182T>C , LRG_684t1:c.1182T>C | NP_000103.2:p.Phe394= | |
XM_017009191.2:c.1182T>C | XP_016864680.1:p.Phe394= | |
NM_000112.4:c.1182T>C MANE Select | NP_000103.2:p.Phe394= |