HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28506296A>G , CM000678.2:g.28506296A>G | GRCh38 |
NC_000016.9:g.28517617A>G , CM000678.1:g.28517617A>G | GRCh37 |
NC_000016.8:g.28425118A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356897.1:c.31+485T>C MANE Select | ENSP00000349365.1:n.31+485T>C | |
ENST00000568075.1:c.-362-2246T>C | ENSP00000455990.1:n.-362-2246T>C | |
NM_145659.3:c.31+485T>C MANE Select | NP_663634.2:n.31+485T>C | |
XM_011545780.1:c.38-2246T>C | XP_011544082.1:n.38-2246T>C | |
XM_011545780.2:c.38-2246T>C | XP_011544082.1:n.38-2246T>C |