HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115732800A= , CM000663.2:g.115732800A= | GRCh38 |
NC_000001.10:g.116275421A= , CM000663.1:g.116275421A= | GRCh37 |
NC_000001.9:g.116076944A= | NCBI36 |
NG_008802.1:g.41006T= , LRG_404:g.41006T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000488931.2:c.330+101T= | ENSP00000518226.1:n.330+101T= | |
ENST00000261448.6:c.606+101T= MANE Select | ENSP00000261448.5:n.606+101T= | |
ENST00000261448.5:c.606+101T= | ENSP00000261448.5:n.606+101T= | |
ENST00000488931.1:n.27+101T= | ||
NM_001232.3:c.606+101T= , LRG_404t1:c.606+101T= | NP_001223.2:n.606+101T= | |
NM_001232.4:c.606+101T= MANE Select | NP_001223.2:n.606+101T= |