| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859860G>T , CM000668.2:g.31859860G>T | GRCh38 |
| NC_000006.11:g.31827637G>T , CM000668.1:g.31827637G>T | GRCh37 |
| NC_000006.10:g.31935616G>T | NCBI36 |
| NG_008201.1:g.8073C>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.1107C>A MANE Select | NP_000425.1:p.Gly369= |
| ENST00000375631.5:c.1107C>A MANE Select | ENSP00000364782.4:p.Gly369= |
| NM_000434.3:c.1107C>A | NP_000425.1:p.Gly369= |
| ENST00000375631.4:c.1107C>A | ENSP00000364782.4:p.Gly369= |
| ENST00000480384.1:n.1406C>A | |
| ENST00000491768.5:c.*217C>A | ENSP00000433127.1:n.*217C>A |
| ENST00000495807.1:n.2415C>A | |
| ENST00000677054.1:n.2446C>A | |
| ENST00000677512.1:n.1384C>A | |
| ENST00000678869.1:n.1695C>A |