HGVS | Genome Assembly |
---|---|
NC_000004.12:g.143695248T>C , CM000666.2:g.143695248T>C | GRCh38 |
NC_000004.11:g.144616401T>C , CM000666.1:g.144616401T>C | GRCh37 |
NC_000004.10:g.144835851T>C | NCBI36 |
NG_052820.1:g.10428A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329798.5:c.5185+243A>G MANE Select | ENSP00000332886.5:n.5185+243A>G | |
NM_001168235.1:c.5185+243A>G | NP_001161707.1:n.5185+243A>G | |
NM_001168235.2:c.5185+243A>G MANE Select | NP_001161707.1:n.5185+243A>G |