HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370483C>G , CM000683.2:g.34370483C>G | GRCh38 |
NC_000021.8:g.35742782C>G , CM000683.1:g.35742782C>G | GRCh37 |
NC_000021.7:g.34664652C>G | NCBI36 |
NG_008804.1:g.11460C>G , LRG_291:g.11460C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290310.4:c.5C>G MANE Select | ENSP00000290310.2:p.Ser2Cys | |
ENST00000290310.3:c.5C>G | ENSP00000290310.2:p.Ser2Cys | |
NM_172201.1:c.5C>G , LRG_291t1:c.5C>G | NP_751951.1:p.Ser2Cys | |
XR_937683.1:n.838G>C | ||
XR_937684.1:n.838G>C | ||
XR_001755012.2:n.959G>C | ||
XR_001755013.2:n.838G>C | ||
XR_937683.2:n.838G>C | ||
NM_172201.2:c.5C>G MANE Select | NP_751951.1:p.Ser2Cys |