HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56450062G>T , CM000674.2:g.56450062G>T | GRCh38 |
NC_000012.11:g.56843846G>T , CM000674.1:g.56843846G>T | GRCh37 |
NC_000012.10:g.55130113G>T | NCBI36 |
NG_021397.1:g.9590C>A | |
NG_021397.2:g.24105C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648304.1:c.*1634C>A | ENSP00000497190.1:n.*1634C>A | |
ENST00000652304.1:c.*1218C>A MANE Select | ENSP00000498622.1:n.*1218C>A | |
ENST00000257979.4:c.*1218C>A | ENSP00000257979.4:n.*1218C>A | |
NM_012064.3:c.*1218C>A | NP_036196.1:n.*1218C>A | |
XM_011538354.1:c.*1218C>A | XP_011536656.1:n.*1218C>A | |
NM_012064.4:c.*1218C>A MANE Select | NP_036196.1:n.*1218C>A | |
XM_017019306.1:c.*1218C>A | XP_016874795.1:n.*1218C>A |