HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861440C>G , CM000668.2:g.31861440C>G | GRCh38 |
NC_000006.11:g.31829217C>G , CM000668.1:g.31829217C>G | GRCh37 |
NC_000006.10:g.31937196C>G | NCBI36 |
NG_008201.1:g.6493G>C | |
NG_023058.1:g.22607G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.363G>C MANE Select | ENSP00000364782.4:p.Trp121Cys | |
ENST00000677054.1:n.1040G>C | ||
ENST00000677512.1:n.471G>C | ||
ENST00000678869.1:n.471G>C | ||
ENST00000375631.4:c.363G>C | ENSP00000364782.4:p.Trp121Cys | |
ENST00000480384.1:n.392G>C | ||
ENST00000491768.5:c.363G>C | ENSP00000433127.1:p.Trp121Cys | |
ENST00000495807.1:n.931G>C | ||
NM_000434.3:c.363G>C | NP_000425.1:p.Trp121Cys | |
NM_000434.4:c.363G>C MANE Select | NP_000425.1:p.Trp121Cys |