HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186197335G>T , CM000666.2:g.186197335G>T | GRCh38 |
NC_000004.11:g.187118489G>T , CM000666.1:g.187118489G>T | GRCh37 |
NC_000004.10:g.187355483G>T | NCBI36 |
NG_007965.1:g.10816G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.605-198G>T MANE Select | ENSP00000368079.4:n.605-198G>T | |
ENST00000378802.4:c.605-198G>T | ENSP00000368079.4:n.605-198G>T | |
ENST00000507209.5:n.1248G>T | ||
NM_207352.3:c.605-198G>T | NP_997235.3:n.605-198G>T | |
XM_005262935.2:c.605-198G>T | XP_005262992.1:n.605-198G>T | |
XM_006714184.2:c.209-198G>T | XP_006714247.1:n.209-198G>T | |
XM_005262935.4:c.605-198G>T | XP_005262992.1:n.605-198G>T | |
XM_017008037.1:c.209-198G>T | XP_016863526.1:n.209-198G>T | |
NM_207352.4:c.605-198G>T MANE Select | NP_997235.3:n.605-198G>T |