HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370574T>C , CM000683.2:g.34370574T>C | GRCh38 |
NC_000021.8:g.35742873T>C , CM000683.1:g.35742873T>C | GRCh37 |
NC_000021.7:g.34664743T>C | NCBI36 |
NG_008804.1:g.11551T>C , LRG_291:g.11551T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290310.4:c.96T>C MANE Select | ENSP00000290310.2:p.Ala32= | |
ENST00000290310.3:c.96T>C | ENSP00000290310.2:p.Ala32= | |
NM_172201.1:c.96T>C , LRG_291t1:c.96T>C | NP_751951.1:p.Ala32= | |
XR_937683.1:n.747A>G | ||
XR_937684.1:n.747A>G | ||
XR_001755012.2:n.868A>G | ||
XR_001755013.2:n.747A>G | ||
XR_937683.2:n.747A>G | ||
NM_172201.2:c.96T>C MANE Select | NP_751951.1:p.Ala32= |