HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31860055T>G , CM000668.2:g.31860055T>G | GRCh38 |
NC_000006.11:g.31827832T>G , CM000668.1:g.31827832T>G | GRCh37 |
NC_000006.10:g.31935811T>G | NCBI36 |
NG_008201.1:g.7878A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.1008A>C MANE Select | ENSP00000364782.4:p.Ala336= | |
ENST00000677054.1:n.2251A>C | ||
ENST00000677512.1:n.1290A>C | ||
ENST00000678869.1:n.1596A>C | ||
ENST00000375631.4:c.1008A>C | ENSP00000364782.4:p.Ala336= | |
ENST00000480384.1:n.1211A>C | ||
ENST00000491768.5:c.*118A>C | ENSP00000433127.1:n.*118A>C | |
ENST00000495807.1:n.2316A>C | ||
NM_000434.3:c.1008A>C | NP_000425.1:p.Ala336= | |
NM_000434.4:c.1008A>C MANE Select | NP_000425.1:p.Ala336= |