HGVS | Genome Assembly |
---|---|
NC_000019.10:g.1038446C>T , CM000681.2:g.1038446C>T | GRCh38 |
NC_000019.9:g.1038445C>T , CM000681.1:g.1038445C>T | GRCh37 |
NC_000019.8:g.989445C>T | NCBI36 |
NG_046909.1:g.3344C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263097.9:c.*546C>T MANE Select | ENSP00000263097.2:n.*546C>T | |
ENST00000263097.8:c.*546C>T | ENSP00000263097.2:n.*546C>T | |
ENST00000348419.7:c.*546C>T | ENSP00000340129.2:n.*546C>T | |
ENST00000562958.6:c.*546C>T | ENSP00000456436.1:n.*546C>T | |
ENST00000564572.1:n.1648C>T | ||
ENST00000565096.6:c.*546C>T | ENSP00000457968.1:n.*546C>T | |
NM_001303499.1:c.*546C>T | NP_001290428.1:n.*546C>T | |
NM_001303501.1:c.*546C>T | NP_001290430.1:n.*546C>T | |
NM_004368.3:c.*546C>T | NP_004359.1:n.*546C>T | |
NM_201277.2:c.*546C>T | NP_958434.1:n.*546C>T | |
NM_004368.4:c.*546C>T MANE Select | NP_004359.1:n.*546C>T | |
NM_001303499.2:c.*546C>T | NP_001290428.1:n.*546C>T | |
NM_001303501.2:c.*546C>T | NP_001290430.1:n.*546C>T | |
NM_201277.3:c.*546C>T | NP_958434.1:n.*546C>T |