HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861373T>G , CM000668.2:g.31861373T>G | GRCh38 |
NC_000006.11:g.31829150T>G , CM000668.1:g.31829150T>G | GRCh37 |
NC_000006.10:g.31937129T>G | NCBI36 |
NG_008201.1:g.6560A>C | |
NG_023058.1:g.22674A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.430A>C MANE Select | ENSP00000364782.4:p.Ser144Arg | |
ENST00000677054.1:n.1107A>C | ||
ENST00000677512.1:n.538A>C | ||
ENST00000678869.1:n.538A>C | ||
ENST00000375631.4:c.430A>C | ENSP00000364782.4:p.Ser144Arg | |
ENST00000480384.1:n.459A>C | ||
ENST00000491768.5:c.430A>C | ENSP00000433127.1:p.Ser144Arg | |
ENST00000495807.1:n.998A>C | ||
NM_000434.3:c.430A>C | NP_000425.1:p.Ser144Arg | |
NM_000434.4:c.430A>C MANE Select | NP_000425.1:p.Ser144Arg |