HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21567670C>A , CM000669.2:g.21567670C>A | GRCh38 |
NC_000007.13:g.21607288C>A , CM000669.1:g.21607288C>A | GRCh37 |
NC_000007.12:g.21573813C>A | NCBI36 |
NG_012886.2:g.29456C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.1195-2399C>A MANE Select | ENSP00000475939.1:n.1195-2399C>A | |
ENST00000328843.10:c.1195-2399C>A | ENSP00000330671.7:n.1195-2399C>A | |
ENST00000409508.7:c.1195-2399C>A | ENSP00000475939.1:n.1195-2399C>A | |
ENST00000496218.1:n.81-2399C>A | ||
ENST00000620169.4:c.1195-2399C>A | ENSP00000481693.1:n.1195-2399C>A | |
NM_001277115.1:c.1195-2399C>A | NP_001264044.1:n.1195-2399C>A | |
XR_927090.1:n.563+5656G>T | ||
XR_001745114.1:n.2793+5656G>T | ||
NM_001277115.2:c.1195-2399C>A MANE Select | NP_001264044.1:n.1195-2399C>A |