HGVS | Genome Assembly |
---|---|
NC_000003.12:g.39396824C>T , CM000665.2:g.39396824C>T | GRCh38 |
NC_000003.11:g.39438315C>T , CM000665.1:g.39438315C>T | GRCh37 |
NC_000003.10:g.39413319C>T | NCBI36 |
NG_016931.1:g.18501C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643672.1:c.*304C>T | ENSP00000494532.1:n.*304C>T | |
ENST00000648579.1:c.*516C>T | ENSP00000497638.1:n.*516C>T | |
ENST00000650617.1:c.*304C>T MANE Select | ENSP00000497532.1:n.*304C>T | |
ENST00000273158.8:c.*304C>T | ENSP00000273158.3:n.*304C>T | |
NM_017875.2:c.*304C>T | NP_060345.2:n.*304C>T | |
XM_006713214.1:c.*304C>T | XP_006713277.1:n.*304C>T | |
XM_011533869.1:c.*304C>T | XP_011532171.1:n.*304C>T | |
XM_011533870.1:c.*304C>T | XP_011532172.1:n.*304C>T | |
XM_011533871.1:c.*304C>T | XP_011532173.1:n.*304C>T | |
NM_001354798.1:c.*338C>T | NP_001341727.1:n.*338C>T | |
NM_017875.4:c.*304C>T MANE Select | NP_060345.2:n.*304C>T | |
XM_006713214.2:c.*304C>T | XP_006713277.1:n.*304C>T | |
XM_011533869.2:c.*304C>T | XP_011532171.1:n.*304C>T | |
XM_024453611.1:c.*304C>T | XP_024309379.1:n.*304C>T | |
NM_001354798.2:c.*338C>T | NP_001341727.1:n.*338C>T |