HGVS | Genome Assembly |
---|---|
NC_000006.12:g.14133852T= , CM000668.2:g.14133852T= | GRCh38 |
NC_000006.11:g.14134083T= , CM000668.1:g.14134083T= | GRCh37 |
NC_000006.10:g.14242062T= | NCBI36 |
NG_030372.1:g.21597T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379153.4:c.489+97T= MANE Select | ENSP00000368450.3:n.489+97T= | |
ENST00000379153.3:c.489+97T= | ENSP00000368450.3:n.489+97T= | |
ENST00000612003.4:c.312+97T= | ENSP00000480760.1:n.312+97T= | |
NM_001040280.1:c.489+97T= | NP_001035370.1:n.489+97T= | |
NM_001251901.1:c.312+97T= | NP_001238830.1:n.312+97T= | |
NM_004233.3:c.489+97T= | NP_004224.1:n.489+97T= | |
NM_004233.4:c.489+97T= MANE Select | NP_004224.1:n.489+97T= | |
NM_001040280.2:c.489+97T= | NP_001035370.1:n.489+97T= | |
NM_001040280.3:c.489+97T= | NP_001035370.1:n.489+97T= |