HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25007280C>G , CM000685.2:g.25007280C>G | GRCh38 |
NC_000023.10:g.25025397C>G , CM000685.1:g.25025397C>G | GRCh37 |
NC_000023.9:g.24935318C>G | NCBI36 |
NG_008281.1:g.13669G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.1279G>C MANE Select | ENSP00000368332.4:p.Asp427His | |
ENST00000379044.4:c.1279G>C | ENSP00000368332.4:p.Asp427His | |
NM_139058.2:c.1279G>C | NP_620689.1:p.Asp427His | |
NM_139058.3:c.1279G>C MANE Select | NP_620689.1:p.Asp427His |