HGVS | Genome Assembly |
---|---|
NC_000005.10:g.113387837G>C , CM000667.2:g.113387837G>C | GRCh38 |
NC_000005.9:g.112723534G>C , CM000667.1:g.112723534G>C | GRCh37 |
NC_000005.8:g.112751433G>C | NCBI36 |
NG_012265.1:g.105994C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000408903.7:c.171-2625C>G MANE Select | ENSP00000386227.3:n.171-2625C>G | |
ENST00000408903.6:c.171-2625C>G | ENSP00000386227.3:n.171-2625C>G | |
NM_001085377.1:c.171-2625C>G | NP_001078846.1:n.171-2625C>G | |
XM_017009473.1:c.171-2625C>G | XP_016864962.1:n.171-2625C>G | |
NM_001085377.2:c.171-2625C>G MANE Select | NP_001078846.2:n.171-2625C>G |