HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940367T>G , CM000678.2:g.67940367T>G | GRCh38 |
NC_000016.9:g.67974270T>G , CM000678.1:g.67974270T>G | GRCh37 |
NC_000016.8:g.66531771T>G | NCBI36 |
NG_009778.1:g.8746A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.860A>C MANE Select | ENSP00000264005.5:p.His287Pro | |
ENST00000264005.9:c.860A>C | ENSP00000264005.5:p.His287Pro | |
ENST00000570369.5:c.156-293A>C | ||
ENST00000570980.1:c.644A>C | ENSP00000464651.1:p.His215Pro | |
ENST00000573538.5:c.598A>C | ENSP00000463220.1:n.598A>C | |
NM_000229.1:c.860A>C | NP_000220.1:p.His287Pro | |
NM_000229.2:c.860A>C MANE Select | NP_000220.1:p.His287Pro |