HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56450232A>C , CM000674.2:g.56450232A>C | GRCh38 |
NC_000012.11:g.56844016A>C , CM000674.1:g.56844016A>C | GRCh37 |
NC_000012.10:g.55130283A>C | NCBI36 |
NG_021397.1:g.9420T>G | |
NG_021397.2:g.23935T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648304.1:c.*1464T>G | ENSP00000497190.1:n.*1464T>G | |
ENST00000652304.1:c.*1048T>G MANE Select | ENSP00000498622.1:n.*1048T>G | |
ENST00000257979.4:c.*1048T>G | ENSP00000257979.4:n.*1048T>G | |
NM_012064.3:c.*1048T>G | NP_036196.1:n.*1048T>G | |
XM_011538354.1:c.*1048T>G | XP_011536656.1:n.*1048T>G | |
NM_012064.4:c.*1048T>G MANE Select | NP_036196.1:n.*1048T>G | |
XM_017019306.1:c.*1048T>G | XP_016874795.1:n.*1048T>G |