HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151688503A>G , CM000668.2:g.151688503A>G | GRCh38 |
NC_000006.11:g.152009638A>G , CM000668.1:g.152009638A>G | GRCh37 |
NC_000006.10:g.152051331A>G | NCBI36 |
NG_008493.1:g.3008A>G | |
NG_008493.2:g.36813A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000473497.5:n.74-13372A>G | ||
XM_017010376.1:c.-201-13372A>G | XP_016865865.1:n.-201-13372A>G | |
XM_017010377.1:c.-201-13372A>G | XP_016865866.1:n.-201-13372A>G | |
XM_017010380.1:c.-71+31740A>G | XP_016865869.1:n.-71+31740A>G | |
NM_001385568.1:c.-201-13372A>G | NP_001372497.1:n.-201-13372A>G |