HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370554T>C , CM000683.2:g.34370554T>C | GRCh38 |
NC_000021.8:g.35742853T>C , CM000683.1:g.35742853T>C | GRCh37 |
NC_000021.7:g.34664723T>C | NCBI36 |
NG_008804.1:g.11531T>C , LRG_291:g.11531T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290310.4:c.76T>C MANE Select | ENSP00000290310.2:p.Trp26Arg | |
ENST00000290310.3:c.76T>C | ENSP00000290310.2:p.Trp26Arg | |
NM_172201.1:c.76T>C , LRG_291t1:c.76T>C | NP_751951.1:p.Trp26Arg | |
XR_937683.1:n.767A>G | ||
XR_937684.1:n.767A>G | ||
XR_001755012.2:n.888A>G | ||
XR_001755013.2:n.767A>G | ||
XR_937683.2:n.767A>G | ||
NM_172201.2:c.76T>C MANE Select | NP_751951.1:p.Trp26Arg |