HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119352A>C , CM000667.2:g.111119352A>C | GRCh38 |
NC_000005.9:g.110455050A>C , CM000667.1:g.110455050A>C | GRCh37 |
NC_000005.8:g.110482949A>C | NCBI36 |
NG_008979.1:g.32181A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1904+232A>C MANE Select | ENSP00000424628.3:n.1904+232A>C | |
ENST00000506538.6:c.2072+232A>C | ENSP00000423067.2:n.2072+232A>C | |
ENST00000513710.3:c.1904+232A>C | ENSP00000424628.3:n.1904+232A>C | |
ENST00000612402.4:c.2072+232A>C | ENSP00000479950.1:n.2072+232A>C | |
NM_139281.2:c.2072+232A>C | NP_644810.1:n.2072+232A>C | |
XM_011543163.1:c.2072+232A>C | XP_011541465.1:n.2072+232A>C | |
NM_139281.3:c.1904+232A>C MANE Select | NP_644810.2:n.1904+232A>C |