HGVS | Genome Assembly |
---|---|
NC_000005.10:g.150860492T>G , CM000667.2:g.150860492T>G | GRCh38 |
NC_000005.9:g.150240054T>G , CM000667.1:g.150240054T>G | GRCh37 |
NC_000005.8:g.150220247T>G | NCBI36 |
NG_027809.2:g.18970T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000520549.1:c.158+11838T>G | ||
XM_011537641.1:c.531+11838T>G | XP_011535943.1:n.531+11838T>G | |
NM_001346557.1:c.531+11838T>G | NP_001333486.1:n.531+11838T>G | |
NM_001346557.2:c.531+11838T>G | NP_001333486.1:n.531+11838T>G | |
NR_170598.1:n.1646+11838T>G |