HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31860004A>G , CM000668.2:g.31860004A>G | GRCh38 |
NC_000006.11:g.31827781A>G , CM000668.1:g.31827781A>G | GRCh37 |
NC_000006.10:g.31935760A>G | NCBI36 |
NG_008201.1:g.7929T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.1021+38T>C MANE Select | ENSP00000364782.4:n.1021+38T>C | |
ENST00000677054.1:n.2302T>C | ||
ENST00000677512.1:n.1298+43T>C | ||
ENST00000678869.1:n.1609+38T>C | ||
ENST00000375631.4:c.1021+38T>C | ENSP00000364782.4:n.1021+38T>C | |
ENST00000480384.1:n.1262T>C | ||
ENST00000491768.5:c.*131+38T>C | ENSP00000433127.1:n.*131+38T>C | |
ENST00000495807.1:n.2329+38T>C | ||
NM_000434.3:c.1021+38T>C | NP_000425.1:n.1021+38T>C | |
NM_000434.4:c.1021+38T>C MANE Select | NP_000425.1:n.1021+38T>C |