HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56450184A>G , CM000674.2:g.56450184A>G | GRCh38 |
NC_000012.11:g.56843968A>G , CM000674.1:g.56843968A>G | GRCh37 |
NC_000012.10:g.55130235A>G | NCBI36 |
NG_021397.1:g.9468T>C | |
NG_021397.2:g.23983T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648304.1:c.*1512T>C | ENSP00000497190.1:n.*1512T>C | |
ENST00000652304.1:c.*1096T>C MANE Select | ENSP00000498622.1:n.*1096T>C | |
ENST00000257979.4:c.*1096T>C | ENSP00000257979.4:n.*1096T>C | |
NM_012064.3:c.*1096T>C | NP_036196.1:n.*1096T>C | |
XM_011538354.1:c.*1096T>C | XP_011536656.1:n.*1096T>C | |
NM_012064.4:c.*1096T>C MANE Select | NP_036196.1:n.*1096T>C | |
XM_017019306.1:c.*1096T>C | XP_016874795.1:n.*1096T>C |