HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47325223T>C , CM000672.2:g.47325223T>C | GRCh38 |
NC_000010.10:g.48414139A>G , CM000672.1:g.48414139A>G | GRCh37 |
NC_000010.9:g.48034145A>G | NCBI36 |
NG_033916.1:g.7734T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000581492.3:c.729T>C MANE Select | ENSP00000463051.1:p.Ser243= | |
ENST00000581492.2:c.729T>C | ENSP00000463051.1:p.Ser243= | |
NM_016204.2:c.729T>C | NP_057288.1:p.Ser243= | |
XM_006717761.2:c.729T>C | XP_006717824.1:p.Ser243= | |
NM_016204.3:c.729T>C | NP_057288.1:p.Ser243= | |
NM_016204.4:c.729T>C MANE Select | NP_057288.1:p.Ser243= |