HGVS | Genome Assembly |
---|---|
NC_000005.10:g.41475678C>A , CM000667.2:g.41475678C>A | GRCh38 |
NC_000005.9:g.41475780C>A , CM000667.1:g.41475780C>A | GRCh37 |
NC_000005.8:g.41511537C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377801.8:c.103+34746G>T MANE Select | ENSP00000367032.3:n.103+34746G>T | |
ENST00000328457.5:c.103+34746G>T | ENSP00000333751.3:n.103+34746G>T | |
ENST00000377801.7:c.103+34746G>T | ENSP00000367032.3:n.103+34746G>T | |
NM_001005473.2:c.103+34746G>T | NP_001005473.1:n.103+34746G>T | |
NM_001005473.3:c.103+34746G>T MANE Select | NP_001005473.1:n.103+34746G>T |