HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731684T>C , CM000685.2:g.8731684T>C | GRCh38 |
NC_000023.10:g.8699725T>C , CM000685.1:g.8699725T>C | GRCh37 |
NC_000023.9:g.8659725T>C | NCBI36 |
NG_007088.1:g.5503A>G | |
NG_007088.2:g.5503A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262648.8:c.207+146A>G MANE Select | ENSP00000262648.3:n.207+146A>G | |
ENST00000262648.7:c.207+146A>G | ENSP00000262648.3:n.207+146A>G | |
ENST00000619786.1:c.204+146A>G | ENSP00000478734.1:n.204+146A>G | |
NM_000216.2:c.207+146A>G | NP_000207.2:n.207+146A>G | |
XM_005274501.3:c.207+146A>G | XP_005274558.1:n.207+146A>G | |
NM_000216.3:c.207+146A>G | NP_000207.2:n.207+146A>G | |
XM_005274501.4:c.207+146A>G | XP_005274558.1:n.207+146A>G | |
NM_000216.4:c.207+146A>G MANE Select | NP_000207.2:n.207+146A>G |