HGVS | Genome Assembly |
---|---|
NC_000007.14:g.15659411G>A , CM000669.2:g.15659411G>A | GRCh38 |
NC_000007.13:g.15699036G>A , CM000669.1:g.15699036G>A | GRCh37 |
NC_000007.12:g.15665561G>A | NCBI36 |
NG_032988.1:g.32273C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262041.6:c.517+26475C>T MANE Select | ENSP00000262041.5:n.517+26475C>T | |
ENST00000262041.5:c.517+26475C>T | ENSP00000262041.5:n.517+26475C>T | |
NM_005924.4:c.517+26475C>T | NP_005915.2:n.517+26475C>T | |
XR_927056.1:n.4770-16609G>A | ||
NM_005924.5:c.517+26475C>T MANE Select | NP_005915.2:n.517+26475C>T |