HGVS | Genome Assembly |
---|---|
NC_000004.12:g.168165472C>T , CM000666.2:g.168165472C>T | GRCh38 |
NC_000004.11:g.169086623C>T , CM000666.1:g.169086623C>T | GRCh37 |
NC_000004.10:g.169323198C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359299.8:c.480+146C>T MANE Select | ENSP00000352248.3:n.480+146C>T | |
ENST00000359299.7:c.480+146C>T | ENSP00000352248.3:n.480+146C>T | |
ENST00000503003.1:n.86+146C>T | ||
ENST00000507278.5:n.143+146C>T | ||
ENST00000617524.1:c.477+146C>T | ENSP00000483710.1:n.477+146C>T | |
NM_007193.4:c.480+146C>T | NP_009124.2:n.480+146C>T | |
XM_011531571.1:c.540+146C>T | XP_011529873.1:n.540+146C>T | |
XM_011531571.2:c.540+146C>T | XP_011529873.1:n.540+146C>T | |
NM_007193.5:c.480+146C>T MANE Select | NP_009124.2:n.480+146C>T |