HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131877068T>G , CM000668.2:g.131877068T>G | GRCh38 |
NC_000006.11:g.132198208T>G , CM000668.1:g.132198208T>G | GRCh37 |
NC_000006.10:g.132239901T>G | NCBI36 |
NG_008206.1:g.74053T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683687.1:n.672T>G | ||
ENST00000684536.1:n.298T>G | ||
ENST00000647893.1:c.1800T>G MANE Select | ENSP00000498074.1:p.Tyr600Ter | |
ENST00000647981.1:n.485T>G | ||
ENST00000650437.1:c.1291T>G | ||
ENST00000360971.6:c.1800T>G | ENSP00000354238.2:p.Tyr600Ter | |
ENST00000459624.1:n.844T>G | ||
ENST00000513998.5:c.*637T>G | ENSP00000422424.1:n.*637T>G | |
NM_006208.2:c.1800T>G | NP_006199.2:p.Tyr600Ter | |
XM_011535896.1:c.690T>G | XP_011534198.1:p.Tyr230Ter | |
NM_006208.3:c.1800T>G MANE Select | NP_006199.2:p.Tyr600Ter |