HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172665576A>T , CM000663.2:g.172665576A>T | GRCh38 |
NC_000001.10:g.172634716A>T , CM000663.1:g.172634716A>T | GRCh37 |
NC_000001.9:g.170901339A>T | NCBI36 |
NG_007269.1:g.11532A>T , LRG_58:g.11532A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.452-46A>T MANE Select | ENSP00000356694.2:n.452-46A>T | |
ENST00000340030.4:c.*22-46A>T | ENSP00000344739.3:n.*22-46A>T | |
ENST00000367721.2:c.452-46A>T | ENSP00000356694.2:n.452-46A>T | |
NM_000639.2:c.452-46A>T | NP_000630.1:n.452-46A>T | |
NM_001302746.1:c.*22-46A>T | NP_001289675.1:n.*22-46A>T | |
NM_000639.3:c.452-46A>T MANE Select | NP_000630.1:n.452-46A>T | |
NM_001302746.2:c.*22-46A>T | NP_001289675.1:n.*22-46A>T |