HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370411C>T , CM000683.2:g.34370411C>T | GRCh38 |
NC_000021.8:g.35742710C>T , CM000683.1:g.35742710C>T | GRCh37 |
NC_000021.7:g.34664580C>T | NCBI36 |
NG_008804.1:g.11388C>T , LRG_291:g.11388C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290310.4:c.-12-56C>T MANE Select | ENSP00000290310.2:n.-12-56C>T | |
ENST00000290310.3:c.-12-56C>T | ENSP00000290310.2:n.-12-56C>T | |
NM_172201.1:c.-12-56C>T , LRG_291t1:c.-12-56C>T | NP_751951.1:n.-12-56C>T | |
XR_937683.1:n.886+24G>A | ||
XR_937684.1:n.886+24G>A | ||
XR_001755012.2:n.1031G>A | ||
XR_001755013.2:n.910G>A | ||
XR_937683.2:n.886+24G>A | ||
NM_172201.2:c.-12-56C>T MANE Select | NP_751951.1:n.-12-56C>T |