HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134498356C>T , CM000685.2:g.134498356C>T | GRCh38 |
NC_000023.10:g.133632386C>T , CM000685.1:g.133632386C>T | GRCh37 |
NC_000023.9:g.133460052C>T | NCBI36 |
NG_012329.1:g.43212C>T | |
NG_012329.2:g.43212C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298556.8:c.486-34C>T MANE Select | ENSP00000298556.7:n.486-34C>T | |
ENST00000298556.7:c.486-34C>T | ENSP00000298556.7:n.486-34C>T | |
ENST00000462974.5:n.644-34C>T | ||
ENST00000475720.1:n.444-34C>T | ||
NM_000194.2:c.486-34C>T | NP_000185.1:n.486-34C>T | |
XM_011531328.1:c.504-34C>T | XP_011529630.1:n.504-34C>T | |
NM_000194.3:c.486-34C>T MANE Select | NP_000185.1:n.486-34C>T |