HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159322656A>G , CM000667.2:g.159322656A>G | GRCh38 |
NC_000005.9:g.158749664A>G , CM000667.1:g.158749664A>G | GRCh37 |
NC_000005.8:g.158682242A>G | NCBI36 |
NG_009618.1:g.12818T>C , LRG_71:g.12818T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2136T>C | ENSP00000512849.1:n.-148-2136T>C | |
ENST00000696751.1:c.364+398T>C | ENSP00000512850.1:n.364+398T>C | |
ENST00000231228.3:c.365-145T>C MANE Select | ENSP00000231228.2:n.365-145T>C | |
ENST00000231228.2:c.365-145T>C | ENSP00000231228.2:n.365-145T>C | |
NM_002187.2:c.365-145T>C , LRG_71t1:c.365-145T>C | NP_002178.2:n.365-145T>C | |
XR_001742945.1:n.147+2060A>G | ||
NM_002187.3:c.365-145T>C MANE Select | NP_002178.2:n.365-145T>C |