HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119369A= , CM000667.2:g.111119369A= | GRCh38 |
NC_000005.9:g.110455067A= , CM000667.1:g.110455067A= | GRCh37 |
NC_000005.8:g.110482966A= | NCBI36 |
NG_008979.1:g.32198A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1904+249A= MANE Select | ENSP00000424628.3:n.1904+249A= | |
ENST00000506538.6:c.2072+249A= | ENSP00000423067.2:n.2072+249A= | |
ENST00000513710.3:c.1904+249A= | ENSP00000424628.3:n.1904+249A= | |
ENST00000612402.4:c.2072+249A= | ENSP00000479950.1:n.2072+249A= | |
NM_139281.2:c.2072+249A= | NP_644810.1:n.2072+249A= | |
XM_011543163.1:c.2072+249A= | XP_011541465.1:n.2072+249A= | |
NM_139281.3:c.1904+249A= MANE Select | NP_644810.2:n.1904+249A= |