HGVS | Genome Assembly |
---|---|
NC_000007.14:g.129213199A>T , CM000669.2:g.129213199A>T | GRCh38 |
NC_000007.13:g.128853040A>T , CM000669.1:g.128853040A>T | GRCh37 |
NC_000007.12:g.128640276A>T | NCBI36 |
NG_023340.1:g.29328A>T | |
NG_023340.2:g.29328A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249373.8:c.*748A>T MANE Select | ENSP00000249373.3:n.*748A>T | |
ENST00000655644.1:c.*2867A>T | ENSP00000499377.1:n.*2867A>T | |
ENST00000249373.7:c.*748A>T | ENSP00000249373.3:n.*748A>T | |
NM_005631.4:c.*748A>T | NP_005622.1:n.*748A>T | |
XM_011516522.1:c.*748A>T | XP_011514824.1:n.*748A>T | |
XM_024446891.1:c.*748A>T | XP_024302659.1:n.*748A>T | |
NM_005631.5:c.*748A>T MANE Select | NP_005622.1:n.*748A>T |