HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21567550C>G , CM000669.2:g.21567550C>G | GRCh38 |
NC_000007.13:g.21607168C>G , CM000669.1:g.21607168C>G | GRCh37 |
NC_000007.12:g.21573693C>G | NCBI36 |
NG_012886.2:g.29336C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.1195-2519C>G MANE Select | ENSP00000475939.1:n.1195-2519C>G | |
ENST00000328843.10:c.1195-2519C>G | ENSP00000330671.7:n.1195-2519C>G | |
ENST00000409508.7:c.1195-2519C>G | ENSP00000475939.1:n.1195-2519C>G | |
ENST00000496218.1:n.81-2519C>G | ||
ENST00000620169.4:c.1195-2519C>G | ENSP00000481693.1:n.1195-2519C>G | |
NM_001277115.1:c.1195-2519C>G | NP_001264044.1:n.1195-2519C>G | |
XR_927090.1:n.563+5776G>C | ||
XR_001745114.1:n.2793+5776G>C | ||
NM_001277115.2:c.1195-2519C>G MANE Select | NP_001264044.1:n.1195-2519C>G |