HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56450129G>A , CM000674.2:g.56450129G>A | GRCh38 |
NC_000012.11:g.56843913G>A , CM000674.1:g.56843913G>A | GRCh37 |
NC_000012.10:g.55130180G>A | NCBI36 |
NG_021397.1:g.9523C>T | |
NG_021397.2:g.24038C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648304.1:c.*1567C>T | ENSP00000497190.1:n.*1567C>T | |
ENST00000652304.1:c.*1151C>T MANE Select | ENSP00000498622.1:n.*1151C>T | |
ENST00000257979.4:c.*1151C>T | ENSP00000257979.4:n.*1151C>T | |
NM_012064.3:c.*1151C>T | NP_036196.1:n.*1151C>T | |
XM_011538354.1:c.*1151C>T | XP_011536656.1:n.*1151C>T | |
NM_012064.4:c.*1151C>T MANE Select | NP_036196.1:n.*1151C>T | |
XM_017019306.1:c.*1151C>T | XP_016874795.1:n.*1151C>T |