HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072907A>G , CM000670.2:g.63072907A>G | GRCh38 |
NC_000008.10:g.63985466A>G , CM000670.1:g.63985466A>G | GRCh37 |
NC_000008.9:g.64148020A>G | NCBI36 |
NG_016123.1:g.18147T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260116.5:c.358+28T>C MANE Select | ENSP00000260116.4:n.358+28T>C | |
ENST00000260116.4:c.358+28T>C | ENSP00000260116.4:n.358+28T>C | |
ENST00000521138.1:n.232+12911T>C | ||
NM_000370.3:c.358+28T>C MANE Select | NP_000361.1:n.358+28T>C | |
XM_006716468.2:c.205-8591T>C | XP_006716531.1:n.205-8591T>C | |
XM_006716468.4:c.205-8591T>C | XP_006716531.1:n.205-8591T>C |