HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38071237C>G , CM000664.2:g.38071237C>G | GRCh38 |
NC_000002.11:g.38298380C>G , CM000664.1:g.38298380C>G | GRCh37 |
NC_000002.10:g.38151884C>G | NCBI36 |
NG_008386.2:g.9865G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.1117G>C | ENSP00000478839.2:p.Gly373Arg | |
ENST00000610745.5:c.1117G>C MANE Select | ENSP00000478561.1:p.Gly373Arg | |
ENST00000492443.1:n.495G>C | ||
ENST00000494864.1:c.4G>C | ENSP00000479876.1:p.Gly2Arg | |
ENST00000610745.4:c.1117G>C | ENSP00000478561.1:p.Gly373Arg | |
ENST00000613082.1:n.512G>C | ||
ENST00000614273.1:c.1117G>C | ENSP00000483678.1:p.Gly373Arg | |
NM_000104.3:c.1117G>C | NP_000095.2:p.Gly373Arg | |
NM_000104.4:c.1117G>C MANE Select | NP_000095.2:p.Gly373Arg |