HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869336G>C , CM000664.2:g.240869336G>C | GRCh38 |
NC_000002.11:g.241808753G>C , CM000664.1:g.241808753G>C | GRCh37 |
NC_000002.10:g.241457426G>C | NCBI36 |
NG_008005.1:g.5592G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.332G>C MANE Select | ENSP00000302620.3:p.Arg111Pro | |
ENST00000307503.3:c.332G>C | ENSP00000302620.3:p.Arg111Pro | |
ENST00000472436.1:n.352G>C | ||
NM_000030.2:c.332G>C | NP_000021.1:p.Arg111Pro | |
XR_924060.1:n.405+897C>G | ||
NM_000030.3:c.332G>C MANE Select | NP_000021.1:p.Arg111Pro |