HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31860057C>T , CM000668.2:g.31860057C>T | GRCh38 |
NC_000006.11:g.31827834C>T , CM000668.1:g.31827834C>T | GRCh37 |
NC_000006.10:g.31935813C>T | NCBI36 |
NG_008201.1:g.7876G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.1006G>A MANE Select | ENSP00000364782.4:p.Ala336Thr | |
ENST00000677054.1:n.2249G>A | ||
ENST00000677512.1:n.1288G>A | ||
ENST00000678869.1:n.1594G>A | ||
ENST00000375631.4:c.1006G>A | ENSP00000364782.4:p.Ala336Thr | |
ENST00000480384.1:n.1209G>A | ||
ENST00000491768.5:c.*116G>A | ENSP00000433127.1:n.*116G>A | |
ENST00000495807.1:n.2314G>A | ||
NM_000434.3:c.1006G>A | NP_000425.1:p.Ala336Thr | |
NM_000434.4:c.1006G>A MANE Select | NP_000425.1:p.Ala336Thr |