HGVS | Genome Assembly |
---|---|
NC_000002.12:g.182838368T>C , CM000664.2:g.182838368T>C | GRCh38 |
NC_000002.11:g.183703096T>C , CM000664.1:g.183703096T>C | GRCh37 |
NC_000002.10:g.183411341T>C | NCBI36 |
NG_017197.1:g.33403A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295113.5:c.797+41A>G MANE Select | ENSP00000295113.4:n.797+41A>G | |
ENST00000295113.4:c.797+41A>G | ENSP00000295113.4:n.797+41A>G | |
NM_001463.3:c.797+41A>G | NP_001454.2:n.797+41A>G | |
NM_001463.4:c.797+41A>G MANE Select | NP_001454.2:n.797+41A>G |