HGVS | Genome Assembly |
---|---|
NC_000003.12:g.173019430A>G , CM000665.2:g.173019430A>G | GRCh38 |
NC_000003.11:g.172737220A>G , CM000665.1:g.172737220A>G | GRCh37 |
NC_000003.10:g.174219914A>G | NCBI36 |
NG_021422.1:g.126839T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351008.4:c.848+56T>C MANE Select | ENSP00000341765.3:n.848+56T>C | |
ENST00000351008.3:c.848+56T>C | ENSP00000341765.3:n.848+56T>C | |
NM_031955.5:c.848+56T>C | NP_114161.3:n.848+56T>C | |
XM_006713778.2:c.848+56T>C | XP_006713841.1:n.848+56T>C | |
XM_011513222.1:c.848+56T>C | XP_011511524.1:n.848+56T>C | |
XM_006713778.3:c.848+56T>C | XP_006713841.1:n.848+56T>C | |
XM_017007308.2:c.848+56T>C | XP_016862797.1:n.848+56T>C | |
NM_031955.6:c.848+56T>C MANE Select | NP_114161.3:n.848+56T>C |