HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64624198A>G , CM000670.2:g.64624198A>G | GRCh38 |
NC_000008.10:g.65536755A>G , CM000670.1:g.65536755A>G | GRCh37 |
NC_000008.9:g.65699309A>G | NCBI36 |
NG_008338.1:g.179594T>C | |
NG_008338.2:g.179594T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.259+205T>C MANE Select | ENSP00000310721.3:n.259+205T>C | |
ENST00000310193.3:c.259+205T>C | ENSP00000310721.3:n.259+205T>C | |
NM_004820.3:c.259+205T>C | NP_004811.1:n.259+205T>C | |
NM_001324112.1:c.259+205T>C | NP_001311041.1:n.259+205T>C | |
NM_004820.4:c.259+205T>C | NP_004811.1:n.259+205T>C | |
XM_017014002.1:c.325+205T>C | XP_016869491.1:n.325+205T>C | |
NM_004820.5:c.259+205T>C MANE Select | NP_004811.1:n.259+205T>C | |
NM_001324112.2:c.259+205T>C | NP_001311041.1:n.259+205T>C |