HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21567543G>A , CM000669.2:g.21567543G>A | GRCh38 |
NC_000007.13:g.21607161G>A , CM000669.1:g.21607161G>A | GRCh37 |
NC_000007.12:g.21573686G>A | NCBI36 |
NG_012886.2:g.29329G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.1195-2526G>A MANE Select | ENSP00000475939.1:n.1195-2526G>A | |
ENST00000328843.10:c.1195-2526G>A | ENSP00000330671.7:n.1195-2526G>A | |
ENST00000409508.7:c.1195-2526G>A | ENSP00000475939.1:n.1195-2526G>A | |
ENST00000496218.1:n.81-2526G>A | ||
ENST00000620169.4:c.1195-2526G>A | ENSP00000481693.1:n.1195-2526G>A | |
NM_001277115.1:c.1195-2526G>A | NP_001264044.1:n.1195-2526G>A | |
XR_927090.1:n.563+5783C>T | ||
XR_001745114.1:n.2793+5783C>T | ||
NM_001277115.2:c.1195-2526G>A MANE Select | NP_001264044.1:n.1195-2526G>A |