HGVS | Genome Assembly |
---|---|
NC_000003.12:g.191375099T>C , CM000665.2:g.191375099T>C | GRCh38 |
NC_000003.11:g.191092888T>C , CM000665.1:g.191092888T>C | GRCh37 |
NC_000003.10:g.192575582T>C | NCBI36 |
NG_008994.1:g.51015T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392455.9:c.486T>C MANE Select | ENSP00000376249.4:p.Ser162= | |
ENST00000392456.4:c.449-5060T>C | ENSP00000376250.4:n.449-5060T>C | |
ENST00000392455.7:c.449-5060T>C | ENSP00000376249.3:n.449-5060T>C | |
ENST00000392456.3:c.486T>C | ENSP00000376250.3:p.Ser162= | |
NM_174908.3:c.449-5060T>C | NP_777568.1:n.449-5060T>C | |
NM_178335.2:c.486T>C | NP_848018.1:p.Ser162= | |
XM_011512460.1:c.486T>C | XP_011510762.1:p.Ser162= | |
NM_178335.3:c.486T>C MANE Select | NP_848018.1:p.Ser162= | |
NM_174908.4:c.449-5060T>C | NP_777568.1:n.449-5060T>C |