HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128345268C>G , CM000671.2:g.128345268C>G | GRCh38 |
NC_000009.11:g.131107547C>G , CM000671.1:g.131107547C>G | GRCh37 |
NC_000009.10:g.130147368C>G | NCBI36 |
NG_017057.1:g.9709C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300456.5:c.275C>G MANE Select | ENSP00000300456.3:p.Ala92Gly | |
ENST00000300456.4:c.275C>G | ENSP00000300456.3:p.Ala92Gly | |
ENST00000372870.5:c.231+1987C>G | ENSP00000361961.1:n.231+1987C>G | |
NM_005094.3:c.275C>G | NP_005085.2:p.Ala92Gly | |
XM_017014222.1:c.275C>G | XP_016869711.1:p.Ala92Gly | |
XM_024447391.1:c.275C>G | XP_024303159.1:p.Ala92Gly | |
NM_005094.4:c.275C>G MANE Select | NP_005085.2:p.Ala92Gly |