HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128345274T>G , CM000671.2:g.128345274T>G | GRCh38 |
NC_000009.11:g.131107553T>G , CM000671.1:g.131107553T>G | GRCh37 |
NC_000009.10:g.130147374T>G | NCBI36 |
NG_017057.1:g.9715T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300456.5:c.281T>G MANE Select | ENSP00000300456.3:p.Ile94Ser | |
ENST00000300456.4:c.281T>G | ENSP00000300456.3:p.Ile94Ser | |
ENST00000372870.5:c.231+1993T>G | ENSP00000361961.1:n.231+1993T>G | |
NM_005094.3:c.281T>G | NP_005085.2:p.Ile94Ser | |
XM_017014222.1:c.281T>G | XP_016869711.1:p.Ile94Ser | |
XM_024447391.1:c.281T>G | XP_024303159.1:p.Ile94Ser | |
NM_005094.4:c.281T>G MANE Select | NP_005085.2:p.Ile94Ser |