HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119109A>C , CM000667.2:g.111119109A>C | GRCh38 |
NC_000005.9:g.110454807A>C , CM000667.1:g.110454807A>C | GRCh37 |
NC_000005.8:g.110482706A>C | NCBI36 |
NG_008979.1:g.31938A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1893A>C MANE Select | ENSP00000424628.3:p.Gly631= | |
ENST00000506538.6:c.2061A>C | ENSP00000423067.2:p.Gly687= | |
ENST00000513710.3:c.1893A>C | ENSP00000424628.3:p.Gly631= | |
ENST00000612402.4:c.2061A>C | ENSP00000479950.1:p.Gly687= | |
NM_139281.2:c.2061A>C | NP_644810.1:p.Gly687= | |
XM_011543163.1:c.2061A>C | XP_011541465.1:p.Gly687= | |
NM_139281.3:c.1893A>C MANE Select | NP_644810.2:p.Gly631= |