HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113072573G>T , CM000664.2:g.113072573G>T | GRCh38 |
NC_000002.11:g.113830150G>T , CM000664.1:g.113830150G>T | GRCh37 |
NC_000002.10:g.113546621G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393197.3:c.-166G>T | ENSP00000376893.2:n.-166G>T | |
ENST00000341010.6:c.-28-138G>T MANE Select | ENSP00000341794.2:n.-28-138G>T | |
ENST00000393197.2:c.-166G>T | ENSP00000376893.2:n.-166G>T | |
NM_032556.5:c.-166G>T | NP_115945.4:n.-166G>T | |
NM_173161.2:c.-28-138G>T | NP_775184.1:n.-28-138G>T | |
NM_032556.6:c.-166G>T | NP_115945.4:n.-166G>T | |
NM_173161.3:c.-28-138G>T MANE Select | NP_775184.1:n.-28-138G>T |