HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116822667C>G , CM000673.2:g.116822667C>G | GRCh38 |
NC_000011.9:g.116693383C>G , CM000673.1:g.116693383C>G | GRCh37 |
NC_000011.8:g.116198593C>G | NCBI36 |
NG_012044.1:g.5629G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357780.5:c.168G>C MANE Select | ENSP00000350425.3:p.Gln56His | |
ENST00000357780.4:c.168G>C | ENSP00000350425.3:p.Gln56His | |
NM_000482.3:c.168G>C | NP_000473.2:p.Gln56His | |
NM_000482.4:c.168G>C MANE Select | NP_000473.2:p.Gln56His |