HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44377634C>A , CM000679.2:g.44377634C>A | GRCh38 |
NC_000017.10:g.42455002C>A , CM000679.1:g.42455002C>A | GRCh37 |
NC_000017.9:g.39810528C>A | NCBI36 |
NG_008331.1:g.16872G>T , LRG_479:g.16872G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.2187+64G>T MANE Select | ENSP00000262407.5:n.2187+64G>T | |
ENST00000648408.1:c.1618+64G>T | ||
ENST00000262407.5:c.2187+64G>T | ENSP00000262407.5:n.2187+64G>T | |
ENST00000592462.5:n.982+64G>T | ||
NM_000419.3:c.2187+64G>T , LRG_479t1:c.2187+64G>T | NP_000410.2:n.2187+64G>T | |
XM_011524749.1:c.2187+64G>T | XP_011523051.1:n.2187+64G>T | |
XM_011524750.1:c.2187+64G>T | XP_011523052.1:n.2187+64G>T | |
NM_000419.4:c.2187+64G>T | NP_000410.2:n.2187+64G>T | |
NM_000419.5:c.2187+64G>T MANE Select | NP_000410.2:n.2187+64G>T |