HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940128C>G , CM000678.2:g.67940128C>G | GRCh38 |
NC_000016.9:g.67974031C>G , CM000678.1:g.67974031C>G | GRCh37 |
NC_000016.8:g.66531532C>G | NCBI36 |
NG_009778.1:g.8985G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.1099G>C MANE Select | ENSP00000264005.5:p.Asp367His | |
ENST00000264005.9:c.1099G>C | ENSP00000264005.5:p.Asp367His | |
ENST00000570369.5:c.156-54G>C | ||
ENST00000573538.5:c.837G>C | ENSP00000463220.1:n.837G>C | |
NM_000229.1:c.1099G>C | NP_000220.1:p.Asp367His | |
NM_000229.2:c.1099G>C MANE Select | NP_000220.1:p.Asp367His |