HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104064590C>G , CM000672.2:g.104064590C>G | GRCh38 |
NC_000010.10:g.105824348C>G , CM000672.1:g.105824348C>G | GRCh37 |
NC_000010.9:g.105814338C>G | NCBI36 |
NG_007069.1:g.26291G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369733.8:c.614G>C | ENSP00000358748.3:p.Gly205Ala | |
ENST00000648076.2:c.614G>C MANE Select | ENSP00000497653.1:p.Gly205Ala | |
ENST00000649118.1:n.729G>C | ||
ENST00000650263.1:c.566G>C | ENSP00000497850.1:p.Gly189Ala | |
ENST00000353479.9:c.614G>C | ENSP00000340937.5:p.Gly205Ala | |
ENST00000369733.7:c.614G>C | ENSP00000358748.3:p.Gly205Ala | |
ENST00000393211.3:c.614G>C | ENSP00000376905.3:p.Gly205Ala | |
NM_000494.3:c.614G>C | NP_000485.3:p.Gly205Ala | |
NM_000494.4:c.614G>C MANE Select | NP_000485.3:p.Gly205Ala |