HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68431350G>C , CM000663.2:g.68431350G>C | GRCh38 |
NC_000001.10:g.68897033G>C , CM000663.1:g.68897033G>C | GRCh37 |
NC_000001.9:g.68669621G>C | NCBI36 |
NG_008472.1:g.23610C>G | |
NG_008472.2:g.23610C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1270C>G MANE Select | ENSP00000262340.5:p.Gln424Glu | |
ENST00000262340.5:c.1270C>G | ENSP00000262340.5:p.Gln424Glu | |
NM_000329.2:c.1270C>G | NP_000320.1:p.Gln424Glu | |
XM_017002027.1:c.994C>G | XP_016857516.1:p.Gln332Glu | |
NM_000329.3:c.1270C>G MANE Select | NP_000320.1:p.Gln424Glu |