HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16993092C>G , CM000670.2:g.16993092C>G | GRCh38 |
NC_000008.10:g.16850601C>G , CM000670.1:g.16850601C>G | GRCh37 |
NC_000008.9:g.16894972C>G | NCBI36 |
NG_015978.1:g.14074G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.616G>C MANE Select | ENSP00000180166.5:p.Asp206His | |
ENST00000180166.5:c.616G>C | ENSP00000180166.5:p.Asp206His | |
ENST00000519941.1:c.320G>C | ||
NM_019851.2:c.616G>C | NP_062825.1:p.Asp206His | |
NM_019851.3:c.616G>C MANE Select | NP_062825.1:p.Asp206His |