HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997001A>G , CM000685.2:g.154997001A>G | GRCh38 |
NC_000023.10:g.154225276A>G , CM000685.1:g.154225276A>G | GRCh37 |
NC_000023.9:g.153878470A>G | NCBI36 |
NG_011403.1:g.30723T>C | |
NG_011403.2:g.30723T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.360T>C MANE Select | ENSP00000353393.4:p.Val120= | |
ENST00000647125.1:c.*146T>C | ENSP00000496062.1:n.*146T>C | |
ENST00000360256.8:c.360T>C | ENSP00000353393.4:p.Val120= | |
ENST00000423959.5:c.255T>C | ENSP00000409446.1:p.Val85= | |
ENST00000453950.1:c.342T>C | ENSP00000389153.1:p.Val114= | |
NM_000132.3:c.360T>C | NP_000123.1:p.Val120= | |
XM_011531126.1:c.255T>C | XP_011529428.1:p.Val85= | |
NM_000132.4:c.360T>C MANE Select | NP_000123.1:p.Val120= |