HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64624422A>G , CM000670.2:g.64624422A>G | GRCh38 |
NC_000008.10:g.65536979A>G , CM000670.1:g.65536979A>G | GRCh37 |
NC_000008.9:g.65699533A>G | NCBI36 |
NG_008338.1:g.179370T>C | |
NG_008338.2:g.179370T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.240T>C MANE Select | ENSP00000310721.3:p.Thr80= | |
ENST00000310193.3:c.240T>C | ENSP00000310721.3:p.Thr80= | |
NM_004820.3:c.240T>C | NP_004811.1:p.Thr80= | |
NM_001324112.1:c.240T>C | NP_001311041.1:p.Thr80= | |
NM_004820.4:c.240T>C | NP_004811.1:p.Thr80= | |
XM_017014002.1:c.306T>C | XP_016869491.1:p.Thr102= | |
NM_004820.5:c.240T>C MANE Select | NP_004811.1:p.Thr80= | |
NM_001324112.2:c.240T>C | NP_001311041.1:p.Thr80= |