HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128345281G>C , CM000671.2:g.128345281G>C | GRCh38 |
NC_000009.11:g.131107560G>C , CM000671.1:g.131107560G>C | GRCh37 |
NC_000009.10:g.130147381G>C | NCBI36 |
NG_017057.1:g.9722G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300456.5:c.288G>C MANE Select | ENSP00000300456.3:p.Glu96Asp | |
ENST00000300456.4:c.288G>C | ENSP00000300456.3:p.Glu96Asp | |
ENST00000372870.5:c.231+2000G>C | ENSP00000361961.1:n.231+2000G>C | |
NM_005094.3:c.288G>C | NP_005085.2:p.Glu96Asp | |
XM_017014222.1:c.288G>C | XP_016869711.1:p.Glu96Asp | |
XM_024447391.1:c.288G>C | XP_024303159.1:p.Glu96Asp | |
NM_005094.4:c.288G>C MANE Select | NP_005085.2:p.Glu96Asp |