HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046368G>C , CM000667.2:g.136046368G>C | GRCh38 |
NC_000005.9:g.135382057G>C , CM000667.1:g.135382057G>C | GRCh37 |
NC_000005.8:g.135409956G>C | NCBI36 |
NG_012646.1:g.22474G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.332G>C MANE Select | ENSP00000416330.2:p.Gly111Ala | |
ENST00000442011.6:c.332G>C | ENSP00000416330.2:p.Gly111Ala | |
ENST00000504185.5:n.489G>C | ||
ENST00000506699.5:n.397G>C | ||
ENST00000507018.5:c.249G>C | ||
ENST00000515433.1:n.624G>C | ||
NM_000358.2:c.332G>C | NP_000349.1:p.Gly111Ala | |
NM_000358.3:c.332G>C MANE Select | NP_000349.1:p.Gly111Ala |