HGVS | Genome Assembly |
---|---|
NC_000008.11:g.109097524T>C , CM000670.2:g.109097524T>C | GRCh38 |
NC_000008.10:g.110109753T>C , CM000670.1:g.110109753T>C | GRCh37 |
NC_000008.9:g.110178929T>C | NCBI36 |
NG_017161.1:g.15078T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000518632.2:c.789+9223T>C MANE Select | ENSP00000430711.2:n.789+9223T>C | |
ENST00000311762.2:c.789+9223T>C | ENSP00000309818.2:n.789+9223T>C | |
ENST00000518632.1:c.789+9223T>C | ENSP00000430711.1:n.789+9223T>C | |
NM_003301.5:c.789+9223T>C | NP_003292.1:n.789+9223T>C | |
XM_011517263.1:c.789+9223T>C | XP_011515565.1:n.789+9223T>C | |
XM_011517263.2:c.789+9223T>C | XP_011515565.1:n.789+9223T>C | |
NM_003301.7:c.789+9223T>C MANE Select | NP_003292.1:n.789+9223T>C |