HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114159G>T , CM000667.2:g.140114159G>T | GRCh38 |
NC_000005.9:g.139493744G>T , CM000667.1:g.139493744G>T | GRCh37 |
NC_000005.8:g.139473928G>T | NCBI36 |
NG_041813.1:g.5037G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.-23G>T MANE Select | ENSP00000332706.3:n.-23G>T | |
ENST00000505703.2:c.-23G>T | ENSP00000498560.1:n.-23G>T | |
ENST00000651386.1:c.-23G>T | ENSP00000499133.1:n.-23G>T | |
ENST00000331327.4:c.-23G>T | ENSP00000332706.3:n.-23G>T | |
ENST00000502351.1:n.401G>T | ||
ENST00000505703.1:n.443G>T | ||
NM_005859.4:c.-23G>T | NP_005850.1:n.-23G>T | |
NM_005859.5:c.-23G>T MANE Select | NP_005850.1:n.-23G>T |