HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566766C>A , CM000685.2:g.137566766C>A | GRCh38 |
NC_000023.10:g.136648925C>A , CM000685.1:g.136648925C>A | GRCh37 |
NC_000023.9:g.136476591C>A | NCBI36 |
NG_008115.1:g.5580C>A | |
NG_008115.2:g.5640C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.75C>A MANE Select | ENSP00000287538.5:p.His25Gln | |
ENST00000287538.9:c.75C>A | ENSP00000287538.5:p.His25Gln | |
ENST00000370606.3:c.75C>A | ENSP00000359638.3:p.His25Gln | |
NM_003413.3:c.75C>A | NP_003404.1:p.His25Gln | |
NM_001330661.1:c.75C>A | NP_001317590.1:p.His25Gln | |
NM_003413.4:c.75C>A MANE Select | NP_003404.1:p.His25Gln |