HGVS | Genome Assembly |
---|---|
NC_000005.10:g.81207123A>C , CM000667.2:g.81207123A>C | GRCh38 |
NC_000005.9:g.80502942A>C , CM000667.1:g.80502942A>C | GRCh37 |
NC_000005.8:g.80538698A>C | NCBI36 |
NG_030334.1:g.251435A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265080.9:c.2968-123A>C MANE Select | ENSP00000265080.4:n.2968-123A>C | |
ENST00000265080.8:c.2968-123A>C | ENSP00000265080.4:n.2968-123A>C | |
ENST00000503795.1:c.2968-123A>C | ENSP00000421771.1:n.2968-123A>C | |
NM_006909.2:c.2968-123A>C | NP_008840.1:n.2968-123A>C | |
XM_017009682.2:c.2683-123A>C | XP_016865171.1:n.2683-123A>C | |
XR_002956166.1:n.3084-123A>C | ||
NM_006909.3:c.2968-123A>C MANE Select | NP_008840.1:n.2968-123A>C |