HGVS | Genome Assembly |
---|---|
NC_000005.10:g.113387955C>T , CM000667.2:g.113387955C>T | GRCh38 |
NC_000005.9:g.112723652C>T , CM000667.1:g.112723652C>T | GRCh37 |
NC_000005.8:g.112751551C>T | NCBI36 |
NG_012265.1:g.105876G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000408903.7:c.171-2743G>A MANE Select | ENSP00000386227.3:n.171-2743G>A | |
ENST00000408903.6:c.171-2743G>A | ENSP00000386227.3:n.171-2743G>A | |
NM_001085377.1:c.171-2743G>A | NP_001078846.1:n.171-2743G>A | |
XM_017009473.1:c.171-2743G>A | XP_016864962.1:n.171-2743G>A | |
NM_001085377.2:c.171-2743G>A MANE Select | NP_001078846.2:n.171-2743G>A |