HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869311G>C , CM000664.2:g.240869311G>C | GRCh38 |
NC_000002.11:g.241808728G>C , CM000664.1:g.241808728G>C | GRCh37 |
NC_000002.10:g.241457401G>C | NCBI36 |
NG_008005.1:g.5567G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.307G>C MANE Select | ENSP00000302620.3:p.Gly103Arg | |
ENST00000307503.3:c.307G>C | ENSP00000302620.3:p.Gly103Arg | |
ENST00000472436.1:n.327G>C | ||
NM_000030.2:c.307G>C | NP_000021.1:p.Gly103Arg | |
XR_924060.1:n.405+922C>G | ||
NM_000030.3:c.307G>C MANE Select | NP_000021.1:p.Gly103Arg |