HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38070872C>T , CM000664.2:g.38070872C>T | GRCh38 |
NC_000002.11:g.38298015C>T , CM000664.1:g.38298015C>T | GRCh37 |
NC_000002.10:g.38151519C>T | NCBI36 |
NG_008386.2:g.10230G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.1482G>A | ENSP00000478839.2:p.Arg494= | |
ENST00000610745.5:c.1482G>A MANE Select | ENSP00000478561.1:p.Arg494= | |
ENST00000494864.1:c.369G>A | ENSP00000479876.1:p.Arg123= | |
ENST00000610745.4:c.1482G>A | ENSP00000478561.1:p.Arg494= | |
ENST00000614273.1:c.1482G>A | ENSP00000483678.1:p.Arg494= | |
NM_000104.3:c.1482G>A | NP_000095.2:p.Arg494= | |
NM_000104.4:c.1482G>A MANE Select | NP_000095.2:p.Arg494= |