HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111098295A>G , CM000667.2:g.111098295A>G | GRCh38 |
NC_000005.9:g.110433993A>G , CM000667.1:g.110433993A>G | GRCh37 |
NC_000005.8:g.110461892A>G | NCBI36 |
NG_008979.1:g.11124A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.292-427A>G MANE Select | ENSP00000424628.3:n.292-427A>G | |
ENST00000504122.2:n.174-427A>G | ||
ENST00000505303.5:n.428-427A>G | ||
ENST00000506538.6:c.460-427A>G | ENSP00000423067.2:n.460-427A>G | |
ENST00000513710.3:c.292-427A>G | ENSP00000424628.3:n.292-427A>G | |
ENST00000612402.4:c.460-427A>G | ENSP00000479950.1:n.460-427A>G | |
NM_139281.2:c.460-427A>G | NP_644810.1:n.460-427A>G | |
XM_011543163.1:c.460-427A>G | XP_011541465.1:n.460-427A>G | |
NM_139281.3:c.292-427A>G MANE Select | NP_644810.2:n.292-427A>G |